Canonical Allele Identifier: CA4014342

Gene: BCLAF1

Linked Data

• ClinVar Variation Id: 402422
• ClinVar RCV Id: RCV000454874 ; RCV003972664
• dbSNP Id: rs62431287
• ExAC: 6:136590698 C / T
• gnomAD v2: 6-136590698-C-T
• gnomAD v3: 6-136269560-C-T
• gnomAD v4: 6-136269560-C-T
• MyVariant Identifiers: chr6:g.136590698C>T (hg19) ; chr6:g.136269560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136269560C>T , CM000668.2:g.136269560C>T	GRCh38
NC_000006.11:g.136590698C>T , CM000668.1:g.136590698C>T	GRCh37
NC_000006.10:g.136632391C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531224.6:c.2096G>A MANE Select	ENSP00000435210.1:p.Arg699His
ENST00000640069.1:c.*45G>A	ENSP00000491530.1:n.*45G>A
ENST00000353331.8:c.2090G>A	ENSP00000229446.5:p.Arg697His
ENST00000392348.6:c.2090G>A	ENSP00000376159.2:p.Arg697His
ENST00000527536.5:c.2096G>A	ENSP00000435441.1:p.Arg699His
ENST00000527613.5:c.2096G>A	ENSP00000436216.1:p.Arg699His
ENST00000527759.5:c.2090G>A	ENSP00000434826.1:p.Arg697His
ENST00000529826.5:c.2093G>A	ENSP00000431734.1:p.Arg698His
ENST00000529917.5:n.400G>A
ENST00000530429.5:c.2090G>A	ENSP00000436142.1:p.Arg697His
ENST00000530767.5:c.1577G>A	ENSP00000436501.1:p.Arg526His
ENST00000531224.5:c.2096G>A	ENSP00000435210.1:p.Arg699His
ENST00000532076.1:n.262G>A
ENST00000532384.5:c.2096G>A	ENSP00000433505.1:p.Arg699His
ENST00000534269.5:c.*394G>A	ENSP00000433822.1:n.*394G>A
ENST00000534321.1:n.181G>A
ENST00000534792.5:n.223G>A
ENST00000628517.2:c.2096G>A	ENSP00000487249.1:p.Arg699His
NM_001077440.1:c.2090G>A	NP_001070908.1:p.Arg697His
NM_001077441.1:c.1577G>A	NP_001070909.1:p.Arg526His
NM_001301038.1:c.2090G>A	NP_001287967.1:p.Arg697His
NM_014739.2:c.2096G>A	NP_055554.1:p.Arg699His
XM_005267237.2:c.2096G>A	XP_005267294.1:p.Arg699His
XM_005267239.3:c.263G>A	XP_005267296.1:p.Arg88His
XR_245558.2:n.3143G>A
XR_245559.2:n.3143G>A
XR_942640.1:n.3204G>A
NM_001363659.1:c.2096G>A	NP_001350588.1:p.Arg699His
XM_017011529.2:c.1571G>A	XP_016867018.1:p.Arg524His
XM_017011530.2:c.1577G>A	XP_016867019.1:p.Arg526His
XM_017011531.2:c.1571G>A	XP_016867020.1:p.Arg524His
XM_017011532.2:c.263G>A	XP_016867021.1:p.Arg88His
XR_001743764.2:n.2403G>A
XR_001743766.2:n.2279G>A
XR_001743768.2:n.2569G>A
XR_001743769.2:n.2630G>A
XR_001743770.2:n.1823G>A
XR_001743771.1:n.2506G>A
XR_002956319.1:n.2569G>A
XR_245558.4:n.2342G>A
XR_245559.4:n.2342G>A
NM_001077441.2:c.1577G>A	NP_001070909.1:p.Arg526His
NM_001301038.2:c.2090G>A	NP_001287967.1:p.Arg697His
NM_001363659.2:c.2096G>A	NP_001350588.1:p.Arg699His
NM_014739.3:c.2096G>A MANE Select	NP_055554.1:p.Arg699His
NM_001077440.3:c.2090G>A	NP_001070908.1:p.Arg697His
NM_001077441.3:c.1577G>A	NP_001070909.1:p.Arg526His
NM_001301038.3:c.2090G>A	NP_001287967.1:p.Arg697His
NM_001363659.3:c.2096G>A	NP_001350588.1:p.Arg699His
NM_001386693.1:c.2093G>A	NP_001373622.1:p.Arg698His
NM_001386694.1:c.2093G>A	NP_001373623.1:p.Arg698His
NM_001386695.1:c.1574G>A	NP_001373624.1:p.Arg525His
NM_001386696.1:c.1571G>A	NP_001373625.1:p.Arg524His
NM_001386697.1:c.1577G>A	NP_001373626.1:p.Arg526His
NM_001386698.1:c.1571G>A	NP_001373627.1:p.Arg524His
NM_001386699.1:c.1017-1221G>A	NP_001373628.1:n.1017-1221G>A
NM_001386700.1:c.2096G>A	NP_001373629.1:p.Arg699His
NM_001386701.1:c.2096G>A	NP_001373630.1:p.Arg699His
NM_001386702.1:c.1577G>A	NP_001373631.1:p.Arg526His
NM_001386703.1:c.1571G>A	NP_001373632.1:p.Arg524His
NM_001386704.1:c.1577G>A	NP_001373633.1:p.Arg526His
NR_170164.1:n.2571G>A
NR_170165.1:n.2405G>A
NR_170166.1:n.2338G>A
NR_170167.1:n.2571G>A
NR_170168.1:n.1825G>A
NR_170169.1:n.2344G>A
NR_170170.1:n.2344G>A