Canonical Allele Identifier: CA352156763

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725269-G-A
• MyVariant Identifiers: chr3:g.38766760G>A (hg19) ; chr3:g.38725269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725269G>A , CM000665.2:g.38725269G>A	GRCh38
NC_000003.11:g.38766760G>A , CM000665.1:g.38766760G>A	GRCh37
NC_000003.10:g.38741764G>A	NCBI36
NG_031891.2:g.73742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3133C>T MANE Select	ENSP00000390600.2:p.Pro1045Ser
ENST00000643924.1:c.3130C>T	ENSP00000495595.1:p.Pro1044Ser
ENST00000655275.1:c.3157C>T	ENSP00000499510.1:p.Pro1053Ser
ENST00000449082.2:c.3133C>T	ENSP00000390600.2:p.Pro1045Ser
NM_001293306.2:c.3130C>T	NP_001280235.2:p.Pro1044Ser
NM_001293307.2:c.2839C>T	NP_001280236.2:p.Pro947Ser
NM_006514.3:c.3133C>T	NP_006505.3:p.Pro1045Ser
XM_005265371.2:c.3142C>T	XP_005265428.1:p.Pro1048Ser
XM_011533993.1:c.3139C>T	XP_011532295.1:p.Pro1047Ser
XM_011533994.1:c.2848C>T	XP_011532296.1:p.Pro950Ser
XM_005265371.3:c.3142C>T	XP_005265428.1:p.Pro1048Ser
XM_011533993.2:c.3139C>T	XP_011532295.1:p.Pro1047Ser
XM_011533994.2:c.2848C>T	XP_011532296.1:p.Pro950Ser
NM_006514.4:c.3133C>T MANE Select	NP_006505.4:p.Pro1045Ser