Canonical Allele Identifier: CA10607771

Gene: HJV

Linked Data

• ClinVar Variation Id: 292416
• ClinVar RCV Id: RCV000280593
• dbSNP Id: rs781908480
• gnomAD v2: 1-145413313-C-T
• gnomAD v3: 1-146021700-G-A
• gnomAD v4: 1-146021700-G-A
• MyVariant Identifiers: chr1:g.145413313C>T (hg19) ; chr1:g.146021700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146021700G>A , CM000663.2:g.146021700G>A	GRCh38
NC_000001.10:g.145413313C>T , CM000663.1:g.145413313C>T	GRCh37
NC_000001.9:g.144124670C>T	NCBI36
NG_011568.1:g.5123C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.-203C>T MANE Select	ENSP00000337014.5:n.-203C>T
ENST00000636675.1:c.-58-1966C>T	ENSP00000490072.1:n.-58-1966C>T
ENST00000336751.10:c.-203C>T	ENSP00000337014.5:n.-203C>T
ENST00000357836.5:c.-356C>T	ENSP00000350495.5:n.-356C>T
ENST00000421822.2:c.-221C>T	ENSP00000411863.2:n.-221C>T
ENST00000475797.1:c.-135C>T	ENSP00000425716.1:n.-135C>T
ENST00000497365.5:c.-172C>T	ENSP00000421820.1:n.-172C>T
ENST00000634927.1:c.-203C>T	ENSP00000489347.1:n.-203C>T
NM_001316767.1:c.-358C>T	NP_001303696.1:n.-358C>T
NM_145277.4:c.-356C>T	NP_660320.3:n.-356C>T
NM_202004.3:c.-172C>T	NP_973733.1:n.-172C>T
NM_213652.3:c.-135C>T	NP_998817.1:n.-135C>T
NM_213653.3:c.-203C>T	NP_998818.1:n.-203C>T
XM_005272932.1:c.-221C>T	XP_005272989.1:n.-221C>T
NM_001316767.2:c.-358C>T	NP_001303696.1:n.-358C>T
NM_145277.5:c.-356C>T	NP_660320.3:n.-356C>T
NM_202004.4:c.-172C>T	NP_973733.1:n.-172C>T
NM_213652.4:c.-135C>T	NP_998817.1:n.-135C>T
NM_001379352.1:c.-221C>T	NP_001366281.1:n.-221C>T
NM_213653.4:c.-203C>T MANE Select	NP_998818.1:n.-203C>T