Canonical Allele Identifier: CA2320340

Gene: SCN10A

Linked Data

• dbSNP Id: rs745545483
• ExAC: 3:38766751 G / A
• gnomAD v2: 3-38766751-G-A
• gnomAD v3: 3-38725260-G-A
• gnomAD v4: 3-38725260-G-A
• MyVariant Identifiers: chr3:g.38766751G>A (hg19) ; chr3:g.38725260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725260G>A , CM000665.2:g.38725260G>A	GRCh38
NC_000003.11:g.38766751G>A , CM000665.1:g.38766751G>A	GRCh37
NC_000003.10:g.38741755G>A	NCBI36
NG_031891.2:g.73751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3142C>T MANE Select	ENSP00000390600.2:p.Pro1048Ser
ENST00000643924.1:c.3139C>T	ENSP00000495595.1:p.Pro1047Ser
ENST00000655275.1:c.3166C>T	ENSP00000499510.1:p.Pro1056Ser
ENST00000449082.2:c.3142C>T	ENSP00000390600.2:p.Pro1048Ser
NM_001293306.2:c.3139C>T	NP_001280235.2:p.Pro1047Ser
NM_001293307.2:c.2848C>T	NP_001280236.2:p.Pro950Ser
NM_006514.3:c.3142C>T	NP_006505.3:p.Pro1048Ser
XM_005265371.2:c.3151C>T	XP_005265428.1:p.Pro1051Ser
XM_011533993.1:c.3148C>T	XP_011532295.1:p.Pro1050Ser
XM_011533994.1:c.2857C>T	XP_011532296.1:p.Pro953Ser
XM_005265371.3:c.3151C>T	XP_005265428.1:p.Pro1051Ser
XM_011533993.2:c.3148C>T	XP_011532295.1:p.Pro1050Ser
XM_011533994.2:c.2857C>T	XP_011532296.1:p.Pro953Ser
NM_006514.4:c.3142C>T MANE Select	NP_006505.4:p.Pro1048Ser