Canonical Allele Identifier: CA2639314810

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947009-T-TCAGCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947010_63947011insAGCCCCCCCCC , CM000679.2:g.63947010_63947011insAGCCCCCCCCC	GRCh38
NC_000017.10:g.62024370_62024371insAGCCCCCCCCC , CM000679.1:g.62024370_62024371insAGCCCCCCCCC	GRCh37
NC_000017.9:g.59378102_59378103insAGCCCCCCCCC	NCBI36
NG_011699.1:g.30909_30910insGGGGGGGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+35_3441+36insGGGGGGGGCTG MANE Select	ENSP00000396320.1:n.3441+35_3441+36insGGGGGGGGCTG
ENST00000578147.5:c.3441+35_3441+36insGGGGGGGGCTG	ENSP00000463963.1:n.3441+35_3441+36insGGGGGGGGCTG
NM_000334.4:c.3441+35_3441+36insGGGGGGGGCTG MANE Select	NP_000325.4:n.3441+35_3441+36insGGGGGGGGCTG
XM_005257566.3:c.3441+35_3441+36insGGGGGGGGCTG	XP_005257623.1:n.3441+35_3441+36insGGGGGGGGCTG