Canonical Allele Identifier: CA805958448
Gene: HAND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2086340
ClinVar RCV Id: RCV003015461
dbSNP Id: rs1398783316
gnomAD v3: 5-154477447-T-A
gnomAD v4: 5-154477447-T-A
MyVariant Identifiers: chr5:g.153857007T>A (hg19) chr5:g.154477447T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477447T>A , CM000667.2:g.154477447T>A GRCh38
NC_000005.9:g.153857007T>A , CM000667.1:g.153857007T>A GRCh37
NC_000005.8:g.153837200T>A NCBI36
NG_052889.1:g.5818A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+19A>T MANE Select ENSP00000231121.2:n.543+19A>T
ENST00000231121.2:c.543+19A>T ENSP00000231121.2:n.543+19A>T
NM_004821.2:c.543+19A>T NP_004812.1:n.543+19A>T
XM_005268531.1:c.543+19A>T XP_005268588.1:n.543+19A>T
NM_004821.3:c.543+19A>T MANE Select NP_004812.1:n.543+19A>T
Search 100 bp 5'
Search 100 bp 3'