Canonical Allele Identifier: CA352155243

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38698329-G-A
• MyVariant Identifiers: chr3:g.38739820G>A (hg19) ; chr3:g.38698329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698329G>A , CM000665.2:g.38698329G>A	GRCh38
NC_000003.11:g.38739820G>A , CM000665.1:g.38739820G>A	GRCh37
NC_000003.10:g.38714824G>A	NCBI36
NG_031891.2:g.100682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4891C>T MANE Select	ENSP00000390600.2:p.His1631Tyr
ENST00000643924.1:c.4888C>T	ENSP00000495595.1:p.His1630Tyr
ENST00000655275.1:c.4915C>T	ENSP00000499510.1:p.His1639Tyr
ENST00000449082.2:c.4891C>T	ENSP00000390600.2:p.His1631Tyr
NM_001293306.2:c.4888C>T	NP_001280235.2:p.His1630Tyr
NM_001293307.2:c.4597C>T	NP_001280236.2:p.His1533Tyr
NM_006514.3:c.4891C>T	NP_006505.3:p.His1631Tyr
XM_005265371.2:c.4900C>T	XP_005265428.1:p.His1634Tyr
XM_011533993.1:c.4897C>T	XP_011532295.1:p.His1633Tyr
XM_011533994.1:c.4606C>T	XP_011532296.1:p.His1536Tyr
XM_005265371.3:c.4900C>T	XP_005265428.1:p.His1634Tyr
XM_011533993.2:c.4897C>T	XP_011532295.1:p.His1633Tyr
XM_011533994.2:c.4606C>T	XP_011532296.1:p.His1536Tyr
NM_006514.4:c.4891C>T MANE Select	NP_006505.4:p.His1631Tyr