Canonical Allele Identifier: CA371308334

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777817G>C (hg19) ; chr8:g.60865258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865258G>C , CM000670.2:g.60865258G>C	GRCh38
NC_000008.10:g.61777817G>C , CM000670.1:g.61777817G>C	GRCh37
NC_000008.9:g.61940371G>C	NCBI36
NG_007009.1:g.191479G>C , LRG_176:g.191479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1495G>C
ENST00000695852.1:n.426G>C
ENST00000695853.1:c.*1378G>C	ENSP00000512218.1:n.*1378G>C
ENST00000423902.7:c.8319G>C MANE Select	ENSP00000392028.1:p.Met2773Ile
ENST00000423902.6:c.8319G>C	ENSP00000392028.1:p.Met2773Ile
ENST00000524602.5:c.2172G>C	ENSP00000437061.1:p.Met724Ile
ENST00000528280.1:n.365G>C
NM_001316690.1:c.2172G>C	NP_001303619.1:p.Met724Ile
NM_017780.3:c.8319G>C	NP_060250.2:p.Met2773Ile
XM_011517553.1:c.8409G>C	XP_011515855.1:p.Met2803Ile
XM_011517554.1:c.8409G>C	XP_011515856.1:p.Met2803Ile
XM_011517555.1:c.8406G>C	XP_011515857.1:p.Met2802Ile
XM_011517556.1:c.8187G>C	XP_011515858.1:p.Met2729Ile
XM_011517557.1:c.6396G>C	XP_011515859.1:p.Met2132Ile
XM_011517558.1:c.5946G>C	XP_011515860.1:p.Met1982Ile
XM_011517559.1:c.5154G>C	XP_011515861.1:p.Met1718Ile
XM_011517553.2:c.8409G>C	XP_011515855.1:p.Met2803Ile
XM_011517554.3:c.8409G>C	XP_011515856.1:p.Met2803Ile
XM_011517555.2:c.8406G>C	XP_011515857.1:p.Met2802Ile
XM_017013612.1:c.8409G>C	XP_016869101.1:p.Met2803Ile
XM_017013613.1:c.8316G>C	XP_016869102.1:p.Met2772Ile
NM_017780.4:c.8319G>C MANE Select	NP_060250.2:p.Met2773Ile