Canonical Allele Identifier: CA352156745

Gene: SCN10A

Linked Data

• dbSNP Id: rs745545483
• gnomAD v4: 3-38725260-G-T
• MyVariant Identifiers: chr3:g.38766751G>T (hg19) ; chr3:g.38725260G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3142C>A MANE Select	ENSP00000390600.2:p.Pro1048Thr
ENST00000643924.1:c.3139C>A	ENSP00000495595.1:p.Pro1047Thr
ENST00000655275.1:c.3166C>A	ENSP00000499510.1:p.Pro1056Thr
ENST00000449082.2:c.3142C>A	ENSP00000390600.2:p.Pro1048Thr
NM_001293306.2:c.3139C>A	NP_001280235.2:p.Pro1047Thr
NM_001293307.2:c.2848C>A	NP_001280236.2:p.Pro950Thr
NM_006514.3:c.3142C>A	NP_006505.3:p.Pro1048Thr
XM_005265371.2:c.3151C>A	XP_005265428.1:p.Pro1051Thr
XM_011533993.1:c.3148C>A	XP_011532295.1:p.Pro1050Thr
XM_011533994.1:c.2857C>A	XP_011532296.1:p.Pro953Thr
XM_005265371.3:c.3151C>A	XP_005265428.1:p.Pro1051Thr
XM_011533993.2:c.3148C>A	XP_011532295.1:p.Pro1050Thr
XM_011533994.2:c.2857C>A	XP_011532296.1:p.Pro953Thr
NM_006514.4:c.3142C>A MANE Select	NP_006505.4:p.Pro1048Thr