Canonical Allele Identifier: CA461105971

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865357-G-T
• MyVariant Identifiers: chr8:g.61777916G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865357G>T , CM000670.2:g.60865357G>T	GRCh38
NC_000008.10:g.61777916G>T , CM000670.1:g.61777916G>T	GRCh37
NC_000008.9:g.61940470G>T	NCBI36
NG_007009.1:g.191578G>T , LRG_176:g.191578G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1594G>T
ENST00000695852.1:n.525G>T
ENST00000695853.1:c.*1477G>T	ENSP00000512218.1:n.*1477G>T
ENST00000423902.7:c.8418G>T MANE Select	ENSP00000392028.1:p.Leu2806=
ENST00000423902.6:c.8418G>T	ENSP00000392028.1:p.Leu2806=
ENST00000524602.5:c.2271G>T	ENSP00000437061.1:p.Leu757=
ENST00000528280.1:n.464G>T
NM_001316690.1:c.2271G>T	NP_001303619.1:p.Leu757=
NM_017780.3:c.8418G>T	NP_060250.2:p.Leu2806=
XM_011517553.1:c.8508G>T	XP_011515855.1:p.Leu2836=
XM_011517554.1:c.8508G>T	XP_011515856.1:p.Leu2836=
XM_011517555.1:c.8505G>T	XP_011515857.1:p.Leu2835=
XM_011517556.1:c.8286G>T	XP_011515858.1:p.Leu2762=
XM_011517557.1:c.6495G>T	XP_011515859.1:p.Leu2165=
XM_011517558.1:c.6045G>T	XP_011515860.1:p.Leu2015=
XM_011517559.1:c.5253G>T	XP_011515861.1:p.Leu1751=
XM_011517553.2:c.8508G>T	XP_011515855.1:p.Leu2836=
XM_011517554.3:c.8508G>T	XP_011515856.1:p.Leu2836=
XM_011517555.2:c.8505G>T	XP_011515857.1:p.Leu2835=
XM_017013612.1:c.8508G>T	XP_016869101.1:p.Leu2836=
XM_017013613.1:c.8415G>T	XP_016869102.1:p.Leu2805=
NM_017780.4:c.8418G>T MANE Select	NP_060250.2:p.Leu2806=