Canonical Allele Identifier: CA3526555

Gene: HAND1

Linked Data

• ClinVar Variation Id: 413856
• ClinVar RCV Id: RCV000459692 ; RCV001672784 ; RCV003323553
• dbSNP Id: rs34402828
• ExAC: 5:153857101 A / C
• gnomAD v2: 5-153857101-A-C
• gnomAD v3: 5-154477541-A-C
• gnomAD v4: 5-154477541-A-C
• MyVariant Identifiers: chr5:g.153857101A>C (hg19) ; chr5:g.154477541A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154477541A>C , CM000667.2:g.154477541A>C	GRCh38
NC_000005.9:g.153857101A>C , CM000667.1:g.153857101A>C	GRCh37
NC_000005.8:g.153837294A>C	NCBI36
NG_052889.1:g.5724T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000231121.3:c.468T>G MANE Select	ENSP00000231121.2:p.Ser156=
ENST00000231121.2:c.468T>G	ENSP00000231121.2:p.Ser156=
NM_004821.2:c.468T>G	NP_004812.1:p.Ser156=
XM_005268531.1:c.468T>G	XP_005268588.1:p.Ser156=
NM_004821.3:c.468T>G MANE Select	NP_004812.1:p.Ser156=