Canonical Allele Identifier: CA4760975

Gene: CHD7

Linked Data

• dbSNP Id: rs764021765
• ExAC: 8:61777756 T / C
• gnomAD v2: 8-61777756-T-C
• gnomAD v4: 8-60865197-T-C
• MyVariant Identifiers: chr8:g.61777756T>C (hg19) ; chr8:g.60865197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865197T>C , CM000670.2:g.60865197T>C	GRCh38
NC_000008.10:g.61777756T>C , CM000670.1:g.61777756T>C	GRCh37
NC_000008.9:g.61940310T>C	NCBI36
NG_007009.1:g.191418T>C , LRG_176:g.191418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1434T>C
ENST00000695852.1:n.365T>C
ENST00000695853.1:c.*1317T>C	ENSP00000512218.1:n.*1317T>C
ENST00000423902.7:c.8258T>C MANE Select	ENSP00000392028.1:p.Met2753Thr
ENST00000423902.6:c.8258T>C	ENSP00000392028.1:p.Met2753Thr
ENST00000524602.5:c.2111T>C	ENSP00000437061.1:p.Met704Thr
ENST00000528280.1:n.304T>C
NM_001316690.1:c.2111T>C	NP_001303619.1:p.Met704Thr
NM_017780.3:c.8258T>C	NP_060250.2:p.Met2753Thr
XM_011517553.1:c.8348T>C	XP_011515855.1:p.Met2783Thr
XM_011517554.1:c.8348T>C	XP_011515856.1:p.Met2783Thr
XM_011517555.1:c.8345T>C	XP_011515857.1:p.Met2782Thr
XM_011517556.1:c.8126T>C	XP_011515858.1:p.Met2709Thr
XM_011517557.1:c.6335T>C	XP_011515859.1:p.Met2112Thr
XM_011517558.1:c.5885T>C	XP_011515860.1:p.Met1962Thr
XM_011517559.1:c.5093T>C	XP_011515861.1:p.Met1698Thr
XM_011517553.2:c.8348T>C	XP_011515855.1:p.Met2783Thr
XM_011517554.3:c.8348T>C	XP_011515856.1:p.Met2783Thr
XM_011517555.2:c.8345T>C	XP_011515857.1:p.Met2782Thr
XM_017013612.1:c.8348T>C	XP_016869101.1:p.Met2783Thr
XM_017013613.1:c.8255T>C	XP_016869102.1:p.Met2752Thr
NM_017780.4:c.8258T>C MANE Select	NP_060250.2:p.Met2753Thr