Canonical Allele Identifier: CA16042470

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 373671
• ClinVar RCV Id: RCV000413612
• dbSNP Id: rs1057518542
• gnomAD v2: 3-38764969-G-A
• gnomAD v4: 3-38723478-G-A
• MyVariant Identifiers: chr3:g.38764969G>A (hg19) ; chr3:g.38723478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723478G>A , CM000665.2:g.38723478G>A	GRCh38
NC_000003.11:g.38764969G>A , CM000665.1:g.38764969G>A	GRCh37
NC_000003.10:g.38739973G>A	NCBI36
NG_031891.2:g.75533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3304C>T MANE Select	ENSP00000390600.2:p.Pro1102Ser
ENST00000643924.1:c.3301C>T	ENSP00000495595.1:p.Pro1101Ser
ENST00000655275.1:c.3328C>T	ENSP00000499510.1:p.Pro1110Ser
ENST00000449082.2:c.3304C>T	ENSP00000390600.2:p.Pro1102Ser
NM_001293306.2:c.3301C>T	NP_001280235.2:p.Pro1101Ser
NM_001293307.2:c.3010C>T	NP_001280236.2:p.Pro1004Ser
NM_006514.3:c.3304C>T	NP_006505.3:p.Pro1102Ser
XM_005265371.2:c.3313C>T	XP_005265428.1:p.Pro1105Ser
XM_011533993.1:c.3310C>T	XP_011532295.1:p.Pro1104Ser
XM_011533994.1:c.3019C>T	XP_011532296.1:p.Pro1007Ser
XM_005265371.3:c.3313C>T	XP_005265428.1:p.Pro1105Ser
XM_011533993.2:c.3310C>T	XP_011532295.1:p.Pro1104Ser
XM_011533994.2:c.3019C>T	XP_011532296.1:p.Pro1007Ser
NM_006514.4:c.3304C>T MANE Select	NP_006505.4:p.Pro1102Ser