Canonical Allele Identifier: CA433138245

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38723530-A-G
• MyVariant Identifiers: chr3:g.38765021A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723530A>G , CM000665.2:g.38723530A>G	GRCh38
NC_000003.11:g.38765021A>G , CM000665.1:g.38765021A>G	GRCh37
NC_000003.10:g.38740025A>G	NCBI36
NG_031891.2:g.75481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3252T>C MANE Select	ENSP00000390600.2:p.Ser1084=
ENST00000643924.1:c.3249T>C	ENSP00000495595.1:p.Ser1083=
ENST00000655275.1:c.3276T>C	ENSP00000499510.1:p.Ser1092=
ENST00000449082.2:c.3252T>C	ENSP00000390600.2:p.Ser1084=
NM_001293306.2:c.3249T>C	NP_001280235.2:p.Ser1083=
NM_001293307.2:c.2958T>C	NP_001280236.2:p.Ser986=
NM_006514.3:c.3252T>C	NP_006505.3:p.Ser1084=
XM_005265371.2:c.3261T>C	XP_005265428.1:p.Ser1087=
XM_011533993.1:c.3258T>C	XP_011532295.1:p.Ser1086=
XM_011533994.1:c.2967T>C	XP_011532296.1:p.Ser989=
XM_005265371.3:c.3261T>C	XP_005265428.1:p.Ser1087=
XM_011533993.2:c.3258T>C	XP_011532295.1:p.Ser1086=
XM_011533994.2:c.2967T>C	XP_011532296.1:p.Ser989=
NM_006514.4:c.3252T>C MANE Select	NP_006505.4:p.Ser1084=