Canonical Allele Identifier: CA2270175678
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1597987638
gnomAD v4: 17-63972074-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972074T>G , CM000679.2:g.63972074T>G GRCh38
NC_000017.10:g.62049434T>G , CM000679.1:g.62049434T>G GRCh37
NC_000017.9:g.59403166T>G NCBI36
NG_011699.1:g.5845A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.482+62A>C MANE Select ENSP00000396320.1:n.482+62A>C
ENST00000578147.5:c.482+62A>C ENSP00000463963.1:n.482+62A>C
NM_000334.4:c.482+62A>C MANE Select NP_000325.4:n.482+62A>C
XM_005257566.3:c.482+62A>C XP_005257623.1:n.482+62A>C
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