Canonical Allele Identifier: CA371308047

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777770C>T (hg19) ; chr8:g.60865211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865211C>T , CM000670.2:g.60865211C>T	GRCh38
NC_000008.10:g.61777770C>T , CM000670.1:g.61777770C>T	GRCh37
NC_000008.9:g.61940324C>T	NCBI36
NG_007009.1:g.191432C>T , LRG_176:g.191432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1448C>T
ENST00000695852.1:n.379C>T
ENST00000695853.1:c.*1331C>T	ENSP00000512218.1:n.*1331C>T
ENST00000423902.7:c.8272C>T MANE Select	ENSP00000392028.1:p.Leu2758Phe
ENST00000423902.6:c.8272C>T	ENSP00000392028.1:p.Leu2758Phe
ENST00000524602.5:c.2125C>T	ENSP00000437061.1:p.Leu709Phe
ENST00000528280.1:n.318C>T
NM_001316690.1:c.2125C>T	NP_001303619.1:p.Leu709Phe
NM_017780.3:c.8272C>T	NP_060250.2:p.Leu2758Phe
XM_011517553.1:c.8362C>T	XP_011515855.1:p.Leu2788Phe
XM_011517554.1:c.8362C>T	XP_011515856.1:p.Leu2788Phe
XM_011517555.1:c.8359C>T	XP_011515857.1:p.Leu2787Phe
XM_011517556.1:c.8140C>T	XP_011515858.1:p.Leu2714Phe
XM_011517557.1:c.6349C>T	XP_011515859.1:p.Leu2117Phe
XM_011517558.1:c.5899C>T	XP_011515860.1:p.Leu1967Phe
XM_011517559.1:c.5107C>T	XP_011515861.1:p.Leu1703Phe
XM_011517553.2:c.8362C>T	XP_011515855.1:p.Leu2788Phe
XM_011517554.3:c.8362C>T	XP_011515856.1:p.Leu2788Phe
XM_011517555.2:c.8359C>T	XP_011515857.1:p.Leu2787Phe
XM_017013612.1:c.8362C>T	XP_016869101.1:p.Leu2788Phe
XM_017013613.1:c.8269C>T	XP_016869102.1:p.Leu2757Phe
NM_017780.4:c.8272C>T MANE Select	NP_060250.2:p.Leu2758Phe