Canonical Allele Identifier: CA1083154774
Gene: HAND1 HGNC NCBI

Linked Data

dbSNP Id: rs1757562431
gnomAD v3: 5-154477445-C-G
gnomAD v4: 5-154477445-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477445C>G , CM000667.2:g.154477445C>G GRCh38
NC_000005.9:g.153857005C>G , CM000667.1:g.153857005C>G GRCh37
NC_000005.8:g.153837198C>G NCBI36
NG_052889.1:g.5820G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+21G>C MANE Select ENSP00000231121.2:n.543+21G>C
ENST00000231121.2:c.543+21G>C ENSP00000231121.2:n.543+21G>C
NM_004821.2:c.543+21G>C NP_004812.1:n.543+21G>C
XM_005268531.1:c.543+21G>C XP_005268588.1:n.543+21G>C
NM_004821.3:c.543+21G>C MANE Select NP_004812.1:n.543+21G>C
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