Canonical Allele Identifier: CA371307644

Gene: CHD7

Linked Data

• dbSNP Id: rs1210582890
• gnomAD v2: 8-61777690-C-T
• gnomAD v4: 8-60865131-C-T
• MyVariant Identifiers: chr8:g.61777690C>T (hg19) ; chr8:g.60865131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865131C>T , CM000670.2:g.60865131C>T	GRCh38
NC_000008.10:g.61777690C>T , CM000670.1:g.61777690C>T	GRCh37
NC_000008.9:g.61940244C>T	NCBI36
NG_007009.1:g.191352C>T , LRG_176:g.191352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1368C>T
ENST00000695852.1:n.299C>T
ENST00000695853.1:c.*1251C>T	ENSP00000512218.1:n.*1251C>T
ENST00000423902.7:c.8192C>T MANE Select	ENSP00000392028.1:p.Ala2731Val
ENST00000423902.6:c.8192C>T	ENSP00000392028.1:p.Ala2731Val
ENST00000524602.5:c.2045C>T	ENSP00000437061.1:p.Ala682Val
ENST00000528280.1:n.238C>T
ENST00000532149.1:n.614C>T
NM_001316690.1:c.2045C>T	NP_001303619.1:p.Ala682Val
NM_017780.3:c.8192C>T	NP_060250.2:p.Ala2731Val
XM_011517553.1:c.8282C>T	XP_011515855.1:p.Ala2761Val
XM_011517554.1:c.8282C>T	XP_011515856.1:p.Ala2761Val
XM_011517555.1:c.8279C>T	XP_011515857.1:p.Ala2760Val
XM_011517556.1:c.8060C>T	XP_011515858.1:p.Ala2687Val
XM_011517557.1:c.6269C>T	XP_011515859.1:p.Ala2090Val
XM_011517558.1:c.5819C>T	XP_011515860.1:p.Ala1940Val
XM_011517559.1:c.5027C>T	XP_011515861.1:p.Ala1676Val
XM_011517553.2:c.8282C>T	XP_011515855.1:p.Ala2761Val
XM_011517554.3:c.8282C>T	XP_011515856.1:p.Ala2761Val
XM_011517555.2:c.8279C>T	XP_011515857.1:p.Ala2760Val
XM_017013612.1:c.8282C>T	XP_016869101.1:p.Ala2761Val
XM_017013613.1:c.8189C>T	XP_016869102.1:p.Ala2730Val
NM_017780.4:c.8192C>T MANE Select	NP_060250.2:p.Ala2731Val