Canonical Allele Identifier: CA4760555

Gene: CHD7

Linked Data

• ClinVar Variation Id: 652922
• ClinVar RCV Id: RCV000808593
• dbSNP Id: rs377497122
• ExAC: 8:61765520 A / C
• gnomAD v2: 8-61765520-A-C
• gnomAD v3: 8-60852961-A-C
• gnomAD v4: 8-60852961-A-C
• MyVariant Identifiers: chr8:g.61765520A>C (hg19) ; chr8:g.60852961A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852961A>C , CM000670.2:g.60852961A>C	GRCh38
NC_000008.10:g.61765520A>C , CM000670.1:g.61765520A>C	GRCh37
NC_000008.9:g.61928074A>C	NCBI36
NG_007009.1:g.179182A>C , LRG_176:g.179182A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6236A>C	ENSP00000512218.1:p.Lys2079Thr
ENST00000423902.7:c.6236A>C MANE Select	ENSP00000392028.1:p.Lys2079Thr
ENST00000423902.6:c.6236A>C	ENSP00000392028.1:p.Lys2079Thr
ENST00000524602.5:c.1717-9268A>C	ENSP00000437061.1:n.1717-9268A>C
NM_001316690.1:c.1717-9268A>C	NP_001303619.1:n.1717-9268A>C
NM_017780.3:c.6236A>C	NP_060250.2:p.Lys2079Thr
XM_011517553.1:c.6326A>C	XP_011515855.1:p.Lys2109Thr
XM_011517554.1:c.6326A>C	XP_011515856.1:p.Lys2109Thr
XM_011517555.1:c.6326A>C	XP_011515857.1:p.Lys2109Thr
XM_011517556.1:c.6326A>C	XP_011515858.1:p.Lys2109Thr
XM_011517557.1:c.4313A>C	XP_011515859.1:p.Lys1438Thr
XM_011517558.1:c.3863A>C	XP_011515860.1:p.Lys1288Thr
XM_011517559.1:c.3071A>C	XP_011515861.1:p.Lys1024Thr
XM_011517553.2:c.6326A>C	XP_011515855.1:p.Lys2109Thr
XM_011517554.3:c.6326A>C	XP_011515856.1:p.Lys2109Thr
XM_011517555.2:c.6326A>C	XP_011515857.1:p.Lys2109Thr
XM_017013612.1:c.6326A>C	XP_016869101.1:p.Lys2109Thr
XM_017013613.1:c.6236A>C	XP_016869102.1:p.Lys2079Thr
NM_017780.4:c.6236A>C MANE Select	NP_060250.2:p.Lys2079Thr