Canonical Allele Identifier: CA371308948

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777897T>A (hg19) ; chr8:g.60865338T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865338T>A , CM000670.2:g.60865338T>A	GRCh38
NC_000008.10:g.61777897T>A , CM000670.1:g.61777897T>A	GRCh37
NC_000008.9:g.61940451T>A	NCBI36
NG_007009.1:g.191559T>A , LRG_176:g.191559T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1575T>A
ENST00000695852.1:n.506T>A
ENST00000695853.1:c.*1458T>A	ENSP00000512218.1:n.*1458T>A
ENST00000423902.7:c.8399T>A MANE Select	ENSP00000392028.1:p.Leu2800Gln
ENST00000423902.6:c.8399T>A	ENSP00000392028.1:p.Leu2800Gln
ENST00000524602.5:c.2252T>A	ENSP00000437061.1:p.Leu751Gln
ENST00000528280.1:n.445T>A
NM_001316690.1:c.2252T>A	NP_001303619.1:p.Leu751Gln
NM_017780.3:c.8399T>A	NP_060250.2:p.Leu2800Gln
XM_011517553.1:c.8489T>A	XP_011515855.1:p.Leu2830Gln
XM_011517554.1:c.8489T>A	XP_011515856.1:p.Leu2830Gln
XM_011517555.1:c.8486T>A	XP_011515857.1:p.Leu2829Gln
XM_011517556.1:c.8267T>A	XP_011515858.1:p.Leu2756Gln
XM_011517557.1:c.6476T>A	XP_011515859.1:p.Leu2159Gln
XM_011517558.1:c.6026T>A	XP_011515860.1:p.Leu2009Gln
XM_011517559.1:c.5234T>A	XP_011515861.1:p.Leu1745Gln
XM_011517553.2:c.8489T>A	XP_011515855.1:p.Leu2830Gln
XM_011517554.3:c.8489T>A	XP_011515856.1:p.Leu2830Gln
XM_011517555.2:c.8486T>A	XP_011515857.1:p.Leu2829Gln
XM_017013612.1:c.8489T>A	XP_016869101.1:p.Leu2830Gln
XM_017013613.1:c.8396T>A	XP_016869102.1:p.Leu2799Gln
NM_017780.4:c.8399T>A MANE Select	NP_060250.2:p.Leu2800Gln