Canonical Allele Identifier: CA352155048
Gene: SCN10A HGNC NCBI

Linked Data

gnomAD v4: 3-38698274-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38698274T>C , CM000665.2:g.38698274T>C GRCh38
NC_000003.11:g.38739765T>C , CM000665.1:g.38739765T>C GRCh37
NC_000003.10:g.38714769T>C NCBI36
NG_031891.2:g.100737A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.4946A>G MANE Select ENSP00000390600.2:p.Asn1649Ser
ENST00000643924.1:c.4943A>G ENSP00000495595.1:p.Asn1648Ser
ENST00000655275.1:c.4970A>G ENSP00000499510.1:p.Asn1657Ser
ENST00000449082.2:c.4946A>G ENSP00000390600.2:p.Asn1649Ser
NM_001293306.2:c.4943A>G NP_001280235.2:p.Asn1648Ser
NM_001293307.2:c.4652A>G NP_001280236.2:p.Asn1551Ser
NM_006514.3:c.4946A>G NP_006505.3:p.Asn1649Ser
XM_005265371.2:c.4955A>G XP_005265428.1:p.Asn1652Ser
XM_011533993.1:c.4952A>G XP_011532295.1:p.Asn1651Ser
XM_011533994.1:c.4661A>G XP_011532296.1:p.Asn1554Ser
XM_005265371.3:c.4955A>G XP_005265428.1:p.Asn1652Ser
XM_011533993.2:c.4952A>G XP_011532295.1:p.Asn1651Ser
XM_011533994.2:c.4661A>G XP_011532296.1:p.Asn1554Ser
NM_006514.4:c.4946A>G MANE Select NP_006505.4:p.Asn1649Ser