Canonical Allele Identifier: CA371307748

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777711C>A (hg19) ; chr8:g.60865152C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865152C>A , CM000670.2:g.60865152C>A	GRCh38
NC_000008.10:g.61777711C>A , CM000670.1:g.61777711C>A	GRCh37
NC_000008.9:g.61940265C>A	NCBI36
NG_007009.1:g.191373C>A , LRG_176:g.191373C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1389C>A
ENST00000695852.1:n.320C>A
ENST00000695853.1:c.*1272C>A	ENSP00000512218.1:n.*1272C>A
ENST00000423902.7:c.8213C>A MANE Select	ENSP00000392028.1:p.Thr2738Lys
ENST00000423902.6:c.8213C>A	ENSP00000392028.1:p.Thr2738Lys
ENST00000524602.5:c.2066C>A	ENSP00000437061.1:p.Thr689Lys
ENST00000528280.1:n.259C>A
NM_001316690.1:c.2066C>A	NP_001303619.1:p.Thr689Lys
NM_017780.3:c.8213C>A	NP_060250.2:p.Thr2738Lys
XM_011517553.1:c.8303C>A	XP_011515855.1:p.Thr2768Lys
XM_011517554.1:c.8303C>A	XP_011515856.1:p.Thr2768Lys
XM_011517555.1:c.8300C>A	XP_011515857.1:p.Thr2767Lys
XM_011517556.1:c.8081C>A	XP_011515858.1:p.Thr2694Lys
XM_011517557.1:c.6290C>A	XP_011515859.1:p.Thr2097Lys
XM_011517558.1:c.5840C>A	XP_011515860.1:p.Thr1947Lys
XM_011517559.1:c.5048C>A	XP_011515861.1:p.Thr1683Lys
XM_011517553.2:c.8303C>A	XP_011515855.1:p.Thr2768Lys
XM_011517554.3:c.8303C>A	XP_011515856.1:p.Thr2768Lys
XM_011517555.2:c.8300C>A	XP_011515857.1:p.Thr2767Lys
XM_017013612.1:c.8303C>A	XP_016869101.1:p.Thr2768Lys
XM_017013613.1:c.8210C>A	XP_016869102.1:p.Thr2737Lys
NM_017780.4:c.8213C>A MANE Select	NP_060250.2:p.Thr2738Lys