Canonical Allele Identifier: CA3526543

Gene: HAND1

Linked Data

• ClinVar Variation Id: 413857
• ClinVar RCV Id: RCV000469161 ; RCV001692133 ; RCV003401497 ; RCV003983086
• dbSNP Id: rs34198899
• ExAC: 5:153857038 C / G
• gnomAD v2: 5-153857038-C-G
• gnomAD v3: 5-154477478-C-G
• gnomAD v4: 5-154477478-C-G
• MyVariant Identifiers: chr5:g.153857038C>G (hg19) ; chr5:g.154477478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477478C>G , CM000667.2:g.154477478C>G	GRCh38
NC_000005.9:g.153857038C>G , CM000667.1:g.153857038C>G	GRCh37
NC_000005.8:g.153837231C>G	NCBI36
NG_052889.1:g.5787G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000231121.3:c.531G>C MANE Select	ENSP00000231121.2:p.Arg177=
ENST00000231121.2:c.531G>C	ENSP00000231121.2:p.Arg177=
NM_004821.2:c.531G>C	NP_004812.1:p.Arg177=
XM_005268531.1:c.531G>C	XP_005268588.1:p.Arg177=
NM_004821.3:c.531G>C MANE Select	NP_004812.1:p.Arg177=