Canonical Allele Identifier: CA2639316064
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959171T>G , CM000679.2:g.63959171T>G GRCh38
NC_000017.10:g.62036531T>G , CM000679.1:g.62036531T>G GRCh37
NC_000017.9:g.59390263T>G NCBI36
NG_011699.1:g.18748A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.2019+94A>C MANE Select ENSP00000396320.1:n.2019+94A>C
ENST00000578147.5:c.2019+94A>C ENSP00000463963.1:n.2019+94A>C
NM_000334.4:c.2019+94A>C MANE Select NP_000325.4:n.2019+94A>C
XM_005257566.3:c.2019+94A>C XP_005257623.1:n.2019+94A>C