Canonical Allele Identifier: CA3526593

Gene: HAND1

Linked Data

• ClinVar Variation Id: 252637
• ClinVar RCV Id: RCV000238645 ; RCV000473290 ; RCV001701712 ; RCV003955394
• dbSNP Id: rs201302313
• ExAC: 5:153857322 C / A
• gnomAD v2: 5-153857322-C-A
• gnomAD v3: 5-154477762-C-A
• gnomAD v4: 5-154477762-C-A
• MyVariant Identifiers: chr5:g.153857322C>A (hg19) ; chr5:g.154477762C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477762C>A , CM000667.2:g.154477762C>A	GRCh38
NC_000005.9:g.153857322C>A , CM000667.1:g.153857322C>A	GRCh37
NC_000005.8:g.153837515C>A	NCBI36
NG_052889.1:g.5503G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231121.3:c.247G>T MANE Select	ENSP00000231121.2:p.Gly83Trp
ENST00000231121.2:c.247G>T	ENSP00000231121.2:p.Gly83Trp
NM_004821.2:c.247G>T	NP_004812.1:p.Gly83Trp
XM_005268531.1:c.247G>T	XP_005268588.1:p.Gly83Trp
NM_004821.3:c.247G>T MANE Select	NP_004812.1:p.Gly83Trp