Canonical Allele Identifier: CA8709692
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs770779396
ExAC: 17:62036636 A / G
gnomAD v2: 17-62036636-A-G
gnomAD v4: 17-63959276-A-G
MyVariant Identifiers: chr17:g.62036636A>G (hg19) chr17:g.63959276A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959276A>G , CM000679.2:g.63959276A>G GRCh38
NC_000017.10:g.62036636A>G , CM000679.1:g.62036636A>G GRCh37
NC_000017.9:g.59390368A>G NCBI36
NG_011699.1:g.18643T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2008T>C MANE Select ENSP00000396320.1:p.Ser670Pro
ENST00000578147.5:c.2008T>C ENSP00000463963.1:p.Ser670Pro
NM_000334.4:c.2008T>C MANE Select NP_000325.4:p.Ser670Pro
XM_005257566.3:c.2008T>C XP_005257623.1:p.Ser670Pro
Search 100 bp 5'
Search 100 bp 3'