Canonical Allele Identifier: CA371308244

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777807C>T (hg19) ; chr8:g.60865248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865248C>T , CM000670.2:g.60865248C>T	GRCh38
NC_000008.10:g.61777807C>T , CM000670.1:g.61777807C>T	GRCh37
NC_000008.9:g.61940361C>T	NCBI36
NG_007009.1:g.191469C>T , LRG_176:g.191469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1485C>T
ENST00000695852.1:n.416C>T
ENST00000695853.1:c.*1368C>T	ENSP00000512218.1:n.*1368C>T
ENST00000423902.7:c.8309C>T MANE Select	ENSP00000392028.1:p.Ala2770Val
ENST00000423902.6:c.8309C>T	ENSP00000392028.1:p.Ala2770Val
ENST00000524602.5:c.2162C>T	ENSP00000437061.1:p.Ala721Val
ENST00000528280.1:n.355C>T
NM_001316690.1:c.2162C>T	NP_001303619.1:p.Ala721Val
NM_017780.3:c.8309C>T	NP_060250.2:p.Ala2770Val
XM_011517553.1:c.8399C>T	XP_011515855.1:p.Ala2800Val
XM_011517554.1:c.8399C>T	XP_011515856.1:p.Ala2800Val
XM_011517555.1:c.8396C>T	XP_011515857.1:p.Ala2799Val
XM_011517556.1:c.8177C>T	XP_011515858.1:p.Ala2726Val
XM_011517557.1:c.6386C>T	XP_011515859.1:p.Ala2129Val
XM_011517558.1:c.5936C>T	XP_011515860.1:p.Ala1979Val
XM_011517559.1:c.5144C>T	XP_011515861.1:p.Ala1715Val
XM_011517553.2:c.8399C>T	XP_011515855.1:p.Ala2800Val
XM_011517554.3:c.8399C>T	XP_011515856.1:p.Ala2800Val
XM_011517555.2:c.8396C>T	XP_011515857.1:p.Ala2799Val
XM_017013612.1:c.8399C>T	XP_016869101.1:p.Ala2800Val
XM_017013613.1:c.8306C>T	XP_016869102.1:p.Ala2769Val
NM_017780.4:c.8309C>T MANE Select	NP_060250.2:p.Ala2770Val