Canonical Allele Identifier: CA371307859

Gene: CHD7

Linked Data

• dbSNP Id: rs762924490
• gnomAD v3: 8-60865175-G-T
• gnomAD v4: 8-60865175-G-T
• MyVariant Identifiers: chr8:g.61777734G>T (hg19) ; chr8:g.60865175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865175G>T , CM000670.2:g.60865175G>T	GRCh38
NC_000008.10:g.61777734G>T , CM000670.1:g.61777734G>T	GRCh37
NC_000008.9:g.61940288G>T	NCBI36
NG_007009.1:g.191396G>T , LRG_176:g.191396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1412G>T
ENST00000695852.1:n.343G>T
ENST00000695853.1:c.*1295G>T	ENSP00000512218.1:n.*1295G>T
ENST00000423902.7:c.8236G>T MANE Select	ENSP00000392028.1:p.Val2746Leu
ENST00000423902.6:c.8236G>T	ENSP00000392028.1:p.Val2746Leu
ENST00000524602.5:c.2089G>T	ENSP00000437061.1:p.Val697Leu
ENST00000528280.1:n.282G>T
NM_001316690.1:c.2089G>T	NP_001303619.1:p.Val697Leu
NM_017780.3:c.8236G>T	NP_060250.2:p.Val2746Leu
XM_011517553.1:c.8326G>T	XP_011515855.1:p.Val2776Leu
XM_011517554.1:c.8326G>T	XP_011515856.1:p.Val2776Leu
XM_011517555.1:c.8323G>T	XP_011515857.1:p.Val2775Leu
XM_011517556.1:c.8104G>T	XP_011515858.1:p.Val2702Leu
XM_011517557.1:c.6313G>T	XP_011515859.1:p.Val2105Leu
XM_011517558.1:c.5863G>T	XP_011515860.1:p.Val1955Leu
XM_011517559.1:c.5071G>T	XP_011515861.1:p.Val1691Leu
XM_011517553.2:c.8326G>T	XP_011515855.1:p.Val2776Leu
XM_011517554.3:c.8326G>T	XP_011515856.1:p.Val2776Leu
XM_011517555.2:c.8323G>T	XP_011515857.1:p.Val2775Leu
XM_017013612.1:c.8326G>T	XP_016869101.1:p.Val2776Leu
XM_017013613.1:c.8233G>T	XP_016869102.1:p.Val2745Leu
NM_017780.4:c.8236G>T MANE Select	NP_060250.2:p.Val2746Leu