Canonical Allele Identifier: CA371309895

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865433-A-C
• MyVariant Identifiers: chr8:g.61777992A>C (hg19) ; chr8:g.60865433A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865433A>C , CM000670.2:g.60865433A>C	GRCh38
NC_000008.10:g.61777992A>C , CM000670.1:g.61777992A>C	GRCh37
NC_000008.9:g.61940546A>C	NCBI36
NG_007009.1:g.191654A>C , LRG_176:g.191654A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1670A>C
ENST00000695852.1:n.601A>C
ENST00000695853.1:c.*1553A>C	ENSP00000512218.1:n.*1553A>C
ENST00000423902.7:c.8494A>C MANE Select	ENSP00000392028.1:p.Ser2832Arg
ENST00000423902.6:c.8494A>C	ENSP00000392028.1:p.Ser2832Arg
ENST00000524602.5:c.2347A>C	ENSP00000437061.1:p.Ser783Arg
ENST00000528280.1:n.540A>C
NM_001316690.1:c.2347A>C	NP_001303619.1:p.Ser783Arg
NM_017780.3:c.8494A>C	NP_060250.2:p.Ser2832Arg
XM_011517553.1:c.8584A>C	XP_011515855.1:p.Ser2862Arg
XM_011517554.1:c.8584A>C	XP_011515856.1:p.Ser2862Arg
XM_011517555.1:c.8581A>C	XP_011515857.1:p.Ser2861Arg
XM_011517556.1:c.8362A>C	XP_011515858.1:p.Ser2788Arg
XM_011517557.1:c.6571A>C	XP_011515859.1:p.Ser2191Arg
XM_011517558.1:c.6121A>C	XP_011515860.1:p.Ser2041Arg
XM_011517559.1:c.5329A>C	XP_011515861.1:p.Ser1777Arg
XM_011517553.2:c.8584A>C	XP_011515855.1:p.Ser2862Arg
XM_011517554.3:c.8584A>C	XP_011515856.1:p.Ser2862Arg
XM_011517555.2:c.8581A>C	XP_011515857.1:p.Ser2861Arg
XM_017013612.1:c.8584A>C	XP_016869101.1:p.Ser2862Arg
XM_017013613.1:c.8491A>C	XP_016869102.1:p.Ser2831Arg
NM_017780.4:c.8494A>C MANE Select	NP_060250.2:p.Ser2832Arg