Canonical Allele Identifier: CA371320821

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2090743
• ClinVar RCV Id: RCV003013260
• MyVariant Identifiers: chr8:g.61761104C>A (hg19) ; chr8:g.60848545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848545C>A , CM000670.2:g.60848545C>A	GRCh38
NC_000008.10:g.61761104C>A , CM000670.1:g.61761104C>A	GRCh37
NC_000008.9:g.61923658C>A	NCBI36
NG_007009.1:g.174766C>A , LRG_176:g.174766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5241C>A	ENSP00000512218.1:p.Tyr1747Ter
ENST00000423902.7:c.5241C>A MANE Select	ENSP00000392028.1:p.Tyr1747Ter
ENST00000423902.6:c.5241C>A	ENSP00000392028.1:p.Tyr1747Ter
ENST00000524602.5:c.1717-13684C>A	ENSP00000437061.1:n.1717-13684C>A
NM_001316690.1:c.1717-13684C>A	NP_001303619.1:n.1717-13684C>A
NM_017780.3:c.5241C>A	NP_060250.2:p.Tyr1747Ter
XM_011517553.1:c.5331C>A	XP_011515855.1:p.Tyr1777Ter
XM_011517554.1:c.5331C>A	XP_011515856.1:p.Tyr1777Ter
XM_011517555.1:c.5331C>A	XP_011515857.1:p.Tyr1777Ter
XM_011517556.1:c.5331C>A	XP_011515858.1:p.Tyr1777Ter
XM_011517557.1:c.3318C>A	XP_011515859.1:p.Tyr1106Ter
XM_011517558.1:c.2868C>A	XP_011515860.1:p.Tyr956Ter
XM_011517559.1:c.2076C>A	XP_011515861.1:p.Tyr692Ter
XM_011517553.2:c.5331C>A	XP_011515855.1:p.Tyr1777Ter
XM_011517554.3:c.5331C>A	XP_011515856.1:p.Tyr1777Ter
XM_011517555.2:c.5331C>A	XP_011515857.1:p.Tyr1777Ter
XM_017013612.1:c.5331C>A	XP_016869101.1:p.Tyr1777Ter
XM_017013613.1:c.5241C>A	XP_016869102.1:p.Tyr1747Ter
NM_017780.4:c.5241C>A MANE Select	NP_060250.2:p.Tyr1747Ter