Canonical Allele Identifier: CA433138182

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38764979C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723488C>A , CM000665.2:g.38723488C>A	GRCh38
NC_000003.11:g.38764979C>A , CM000665.1:g.38764979C>A	GRCh37
NC_000003.10:g.38739983C>A	NCBI36
NG_031891.2:g.75523G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3294G>T MANE Select	ENSP00000390600.2:p.Leu1098=
ENST00000643924.1:c.3291G>T	ENSP00000495595.1:p.Leu1097=
ENST00000655275.1:c.3318G>T	ENSP00000499510.1:p.Leu1106=
ENST00000449082.2:c.3294G>T	ENSP00000390600.2:p.Leu1098=
NM_001293306.2:c.3291G>T	NP_001280235.2:p.Leu1097=
NM_001293307.2:c.3000G>T	NP_001280236.2:p.Leu1000=
NM_006514.3:c.3294G>T	NP_006505.3:p.Leu1098=
XM_005265371.2:c.3303G>T	XP_005265428.1:p.Leu1101=
XM_011533993.1:c.3300G>T	XP_011532295.1:p.Leu1100=
XM_011533994.1:c.3009G>T	XP_011532296.1:p.Leu1003=
XM_005265371.3:c.3303G>T	XP_005265428.1:p.Leu1101=
XM_011533993.2:c.3300G>T	XP_011532295.1:p.Leu1100=
XM_011533994.2:c.3009G>T	XP_011532296.1:p.Leu1003=
NM_006514.4:c.3294G>T MANE Select	NP_006505.4:p.Leu1098=