Canonical Allele Identifier: CA371308058

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777773C>A (hg19) ; chr8:g.60865214C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865214C>A , CM000670.2:g.60865214C>A	GRCh38
NC_000008.10:g.61777773C>A , CM000670.1:g.61777773C>A	GRCh37
NC_000008.9:g.61940327C>A	NCBI36
NG_007009.1:g.191435C>A , LRG_176:g.191435C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1451C>A
ENST00000695852.1:n.382C>A
ENST00000695853.1:c.*1334C>A	ENSP00000512218.1:n.*1334C>A
ENST00000423902.7:c.8275C>A MANE Select	ENSP00000392028.1:p.Gln2759Lys
ENST00000423902.6:c.8275C>A	ENSP00000392028.1:p.Gln2759Lys
ENST00000524602.5:c.2128C>A	ENSP00000437061.1:p.Gln710Lys
ENST00000528280.1:n.321C>A
NM_001316690.1:c.2128C>A	NP_001303619.1:p.Gln710Lys
NM_017780.3:c.8275C>A	NP_060250.2:p.Gln2759Lys
XM_011517553.1:c.8365C>A	XP_011515855.1:p.Gln2789Lys
XM_011517554.1:c.8365C>A	XP_011515856.1:p.Gln2789Lys
XM_011517555.1:c.8362C>A	XP_011515857.1:p.Gln2788Lys
XM_011517556.1:c.8143C>A	XP_011515858.1:p.Gln2715Lys
XM_011517557.1:c.6352C>A	XP_011515859.1:p.Gln2118Lys
XM_011517558.1:c.5902C>A	XP_011515860.1:p.Gln1968Lys
XM_011517559.1:c.5110C>A	XP_011515861.1:p.Gln1704Lys
XM_011517553.2:c.8365C>A	XP_011515855.1:p.Gln2789Lys
XM_011517554.3:c.8365C>A	XP_011515856.1:p.Gln2789Lys
XM_011517555.2:c.8362C>A	XP_011515857.1:p.Gln2788Lys
XM_017013612.1:c.8365C>A	XP_016869101.1:p.Gln2789Lys
XM_017013613.1:c.8272C>A	XP_016869102.1:p.Gln2758Lys
NM_017780.4:c.8275C>A MANE Select	NP_060250.2:p.Gln2759Lys