Canonical Allele Identifier: CA371304188

Gene: CHD7

Linked Data

• dbSNP Id: rs1805939272
• gnomAD v3: 8-60860923-A-C
• gnomAD v4: 8-60860923-A-C
• MyVariant Identifiers: chr8:g.61773482A>C (hg19) ; chr8:g.60860923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860923A>C , CM000670.2:g.60860923A>C	GRCh38
NC_000008.10:g.61773482A>C , CM000670.1:g.61773482A>C	GRCh37
NC_000008.9:g.61936036A>C	NCBI36
NG_007009.1:g.187144A>C , LRG_176:g.187144A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.804A>C
ENST00000695851.1:n.8A>C
ENST00000695853.1:c.*687A>C	ENSP00000512218.1:n.*687A>C
ENST00000423902.7:c.7628A>C MANE Select	ENSP00000392028.1:p.Lys2543Thr
ENST00000423902.6:c.7628A>C	ENSP00000392028.1:p.Lys2543Thr
ENST00000524602.5:c.1717-1306A>C	ENSP00000437061.1:n.1717-1306A>C
ENST00000531695.1:n.52A>C
ENST00000618450.1:n.20A>C
NM_001316690.1:c.1717-1306A>C	NP_001303619.1:n.1717-1306A>C
NM_017780.3:c.7628A>C	NP_060250.2:p.Lys2543Thr
XM_011517553.1:c.7718A>C	XP_011515855.1:p.Lys2573Thr
XM_011517554.1:c.7718A>C	XP_011515856.1:p.Lys2573Thr
XM_011517555.1:c.7715A>C	XP_011515857.1:p.Lys2572Thr
XM_011517556.1:c.7699-1273A>C	XP_011515858.1:n.7699-1273A>C
XM_011517557.1:c.5705A>C	XP_011515859.1:p.Lys1902Thr
XM_011517558.1:c.5255A>C	XP_011515860.1:p.Lys1752Thr
XM_011517559.1:c.4463A>C	XP_011515861.1:p.Lys1488Thr
XM_011517553.2:c.7718A>C	XP_011515855.1:p.Lys2573Thr
XM_011517554.3:c.7718A>C	XP_011515856.1:p.Lys2573Thr
XM_011517555.2:c.7715A>C	XP_011515857.1:p.Lys2572Thr
XM_017013612.1:c.7718A>C	XP_016869101.1:p.Lys2573Thr
XM_017013613.1:c.7625A>C	XP_016869102.1:p.Lys2542Thr
NM_017780.4:c.7628A>C MANE Select	NP_060250.2:p.Lys2543Thr