Canonical Allele Identifier: CA3526557
Gene: HAND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1994039
ClinVar RCV Id: RCV002814742
dbSNP Id: rs765762725
ExAC: 5:153857122 C / T
gnomAD v2: 5-153857122-C-T
gnomAD v3: 5-154477562-C-T
gnomAD v4: 5-154477562-C-T
MyVariant Identifiers: chr5:g.153857122C>T (hg19) chr5:g.154477562C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477562C>T , CM000667.2:g.154477562C>T GRCh38
NC_000005.9:g.153857122C>T , CM000667.1:g.153857122C>T GRCh37
NC_000005.8:g.153837315C>T NCBI36
NG_052889.1:g.5703G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000231121.3:c.447G>A MANE Select ENSP00000231121.2:p.Val149=
ENST00000231121.2:c.447G>A ENSP00000231121.2:p.Val149=
NM_004821.2:c.447G>A NP_004812.1:p.Val149=
XM_005268531.1:c.447G>A XP_005268588.1:p.Val149=
NM_004821.3:c.447G>A MANE Select NP_004812.1:p.Val149=
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