Canonical Allele Identifier: CA352155257

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38739824A>T (hg19) ; chr3:g.38698333A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698333A>T , CM000665.2:g.38698333A>T	GRCh38
NC_000003.11:g.38739824A>T , CM000665.1:g.38739824A>T	GRCh37
NC_000003.10:g.38714828A>T	NCBI36
NG_031891.2:g.100678T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4887T>A MANE Select	ENSP00000390600.2:p.Phe1629Leu
ENST00000643924.1:c.4884T>A	ENSP00000495595.1:p.Phe1628Leu
ENST00000655275.1:c.4911T>A	ENSP00000499510.1:p.Phe1637Leu
ENST00000449082.2:c.4887T>A	ENSP00000390600.2:p.Phe1629Leu
NM_001293306.2:c.4884T>A	NP_001280235.2:p.Phe1628Leu
NM_001293307.2:c.4593T>A	NP_001280236.2:p.Phe1531Leu
NM_006514.3:c.4887T>A	NP_006505.3:p.Phe1629Leu
XM_005265371.2:c.4896T>A	XP_005265428.1:p.Phe1632Leu
XM_011533993.1:c.4893T>A	XP_011532295.1:p.Phe1631Leu
XM_011533994.1:c.4602T>A	XP_011532296.1:p.Phe1534Leu
XM_005265371.3:c.4896T>A	XP_005265428.1:p.Phe1632Leu
XM_011533993.2:c.4893T>A	XP_011532295.1:p.Phe1631Leu
XM_011533994.2:c.4602T>A	XP_011532296.1:p.Phe1534Leu
NM_006514.4:c.4887T>A MANE Select	NP_006505.4:p.Phe1629Leu