Canonical Allele Identifier: CA371307995

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777759A>C (hg19) ; chr8:g.60865200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865200A>C , CM000670.2:g.60865200A>C	GRCh38
NC_000008.10:g.61777759A>C , CM000670.1:g.61777759A>C	GRCh37
NC_000008.9:g.61940313A>C	NCBI36
NG_007009.1:g.191421A>C , LRG_176:g.191421A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1437A>C
ENST00000695852.1:n.368A>C
ENST00000695853.1:c.*1320A>C	ENSP00000512218.1:n.*1320A>C
ENST00000423902.7:c.8261A>C MANE Select	ENSP00000392028.1:p.Asp2754Ala
ENST00000423902.6:c.8261A>C	ENSP00000392028.1:p.Asp2754Ala
ENST00000524602.5:c.2114A>C	ENSP00000437061.1:p.Asp705Ala
ENST00000528280.1:n.307A>C
NM_001316690.1:c.2114A>C	NP_001303619.1:p.Asp705Ala
NM_017780.3:c.8261A>C	NP_060250.2:p.Asp2754Ala
XM_011517553.1:c.8351A>C	XP_011515855.1:p.Asp2784Ala
XM_011517554.1:c.8351A>C	XP_011515856.1:p.Asp2784Ala
XM_011517555.1:c.8348A>C	XP_011515857.1:p.Asp2783Ala
XM_011517556.1:c.8129A>C	XP_011515858.1:p.Asp2710Ala
XM_011517557.1:c.6338A>C	XP_011515859.1:p.Asp2113Ala
XM_011517558.1:c.5888A>C	XP_011515860.1:p.Asp1963Ala
XM_011517559.1:c.5096A>C	XP_011515861.1:p.Asp1699Ala
XM_011517553.2:c.8351A>C	XP_011515855.1:p.Asp2784Ala
XM_011517554.3:c.8351A>C	XP_011515856.1:p.Asp2784Ala
XM_011517555.2:c.8348A>C	XP_011515857.1:p.Asp2783Ala
XM_017013612.1:c.8351A>C	XP_016869101.1:p.Asp2784Ala
XM_017013613.1:c.8258A>C	XP_016869102.1:p.Asp2753Ala
NM_017780.4:c.8261A>C MANE Select	NP_060250.2:p.Asp2754Ala