Canonical Allele Identifier: CA371307582

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777679A>C (hg19) ; chr8:g.60865120A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865120A>C , CM000670.2:g.60865120A>C	GRCh38
NC_000008.10:g.61777679A>C , CM000670.1:g.61777679A>C	GRCh37
NC_000008.9:g.61940233A>C	NCBI36
NG_007009.1:g.191341A>C , LRG_176:g.191341A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1357A>C
ENST00000695852.1:n.288A>C
ENST00000695853.1:c.*1240A>C	ENSP00000512218.1:n.*1240A>C
ENST00000423902.7:c.8181A>C MANE Select	ENSP00000392028.1:p.Arg2727Ser
ENST00000423902.6:c.8181A>C	ENSP00000392028.1:p.Arg2727Ser
ENST00000524602.5:c.2034A>C	ENSP00000437061.1:p.Arg678Ser
ENST00000528280.1:n.227A>C
ENST00000532149.1:n.603A>C
ENST00000618450.1:n.4217A>C
NM_001316690.1:c.2034A>C	NP_001303619.1:p.Arg678Ser
NM_017780.3:c.8181A>C	NP_060250.2:p.Arg2727Ser
XM_011517553.1:c.8271A>C	XP_011515855.1:p.Arg2757Ser
XM_011517554.1:c.8271A>C	XP_011515856.1:p.Arg2757Ser
XM_011517555.1:c.8268A>C	XP_011515857.1:p.Arg2756Ser
XM_011517556.1:c.8049A>C	XP_011515858.1:p.Arg2683Ser
XM_011517557.1:c.6258A>C	XP_011515859.1:p.Arg2086Ser
XM_011517558.1:c.5808A>C	XP_011515860.1:p.Arg1936Ser
XM_011517559.1:c.5016A>C	XP_011515861.1:p.Arg1672Ser
XM_011517553.2:c.8271A>C	XP_011515855.1:p.Arg2757Ser
XM_011517554.3:c.8271A>C	XP_011515856.1:p.Arg2757Ser
XM_011517555.2:c.8268A>C	XP_011515857.1:p.Arg2756Ser
XM_017013612.1:c.8271A>C	XP_016869101.1:p.Arg2757Ser
XM_017013613.1:c.8178A>C	XP_016869102.1:p.Arg2726Ser
NM_017780.4:c.8181A>C MANE Select	NP_060250.2:p.Arg2727Ser