Canonical Allele Identifier: CA371307993

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777758G>A (hg19) ; chr8:g.60865199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865199G>A , CM000670.2:g.60865199G>A	GRCh38
NC_000008.10:g.61777758G>A , CM000670.1:g.61777758G>A	GRCh37
NC_000008.9:g.61940312G>A	NCBI36
NG_007009.1:g.191420G>A , LRG_176:g.191420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1436G>A
ENST00000695852.1:n.367G>A
ENST00000695853.1:c.*1319G>A	ENSP00000512218.1:n.*1319G>A
ENST00000423902.7:c.8260G>A MANE Select	ENSP00000392028.1:p.Asp2754Asn
ENST00000423902.6:c.8260G>A	ENSP00000392028.1:p.Asp2754Asn
ENST00000524602.5:c.2113G>A	ENSP00000437061.1:p.Asp705Asn
ENST00000528280.1:n.306G>A
NM_001316690.1:c.2113G>A	NP_001303619.1:p.Asp705Asn
NM_017780.3:c.8260G>A	NP_060250.2:p.Asp2754Asn
XM_011517553.1:c.8350G>A	XP_011515855.1:p.Asp2784Asn
XM_011517554.1:c.8350G>A	XP_011515856.1:p.Asp2784Asn
XM_011517555.1:c.8347G>A	XP_011515857.1:p.Asp2783Asn
XM_011517556.1:c.8128G>A	XP_011515858.1:p.Asp2710Asn
XM_011517557.1:c.6337G>A	XP_011515859.1:p.Asp2113Asn
XM_011517558.1:c.5887G>A	XP_011515860.1:p.Asp1963Asn
XM_011517559.1:c.5095G>A	XP_011515861.1:p.Asp1699Asn
XM_011517553.2:c.8350G>A	XP_011515855.1:p.Asp2784Asn
XM_011517554.3:c.8350G>A	XP_011515856.1:p.Asp2784Asn
XM_011517555.2:c.8347G>A	XP_011515857.1:p.Asp2783Asn
XM_017013612.1:c.8350G>A	XP_016869101.1:p.Asp2784Asn
XM_017013613.1:c.8257G>A	XP_016869102.1:p.Asp2753Asn
NM_017780.4:c.8260G>A MANE Select	NP_060250.2:p.Asp2754Asn