Canonical Allele Identifier: CA371307413

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777655A>C (hg19) ; chr8:g.60865096A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865096A>C , CM000670.2:g.60865096A>C	GRCh38
NC_000008.10:g.61777655A>C , CM000670.1:g.61777655A>C	GRCh37
NC_000008.9:g.61940209A>C	NCBI36
NG_007009.1:g.191317A>C , LRG_176:g.191317A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1333A>C
ENST00000695852.1:n.264A>C
ENST00000695853.1:c.*1216A>C	ENSP00000512218.1:n.*1216A>C
ENST00000423902.7:c.8157A>C MANE Select	ENSP00000392028.1:p.Arg2719Ser
ENST00000423902.6:c.8157A>C	ENSP00000392028.1:p.Arg2719Ser
ENST00000524602.5:c.2010A>C	ENSP00000437061.1:p.Arg670Ser
ENST00000528280.1:n.203A>C
ENST00000532149.1:n.579A>C
ENST00000618450.1:n.4193A>C
NM_001316690.1:c.2010A>C	NP_001303619.1:p.Arg670Ser
NM_017780.3:c.8157A>C	NP_060250.2:p.Arg2719Ser
XM_011517553.1:c.8247A>C	XP_011515855.1:p.Arg2749Ser
XM_011517554.1:c.8247A>C	XP_011515856.1:p.Arg2749Ser
XM_011517555.1:c.8244A>C	XP_011515857.1:p.Arg2748Ser
XM_011517556.1:c.8025A>C	XP_011515858.1:p.Arg2675Ser
XM_011517557.1:c.6234A>C	XP_011515859.1:p.Arg2078Ser
XM_011517558.1:c.5784A>C	XP_011515860.1:p.Arg1928Ser
XM_011517559.1:c.4992A>C	XP_011515861.1:p.Arg1664Ser
XM_011517553.2:c.8247A>C	XP_011515855.1:p.Arg2749Ser
XM_011517554.3:c.8247A>C	XP_011515856.1:p.Arg2749Ser
XM_011517555.2:c.8244A>C	XP_011515857.1:p.Arg2748Ser
XM_017013612.1:c.8247A>C	XP_016869101.1:p.Arg2749Ser
XM_017013613.1:c.8154A>C	XP_016869102.1:p.Arg2718Ser
NM_017780.4:c.8157A>C MANE Select	NP_060250.2:p.Arg2719Ser