Canonical Allele Identifier: CA352174724

Gene: SCN11A

Linked Data

• gnomAD v4: 3-38894739-T-C
• MyVariant Identifiers: chr3:g.38936230T>C (hg19) ; chr3:g.38894739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894739T>C , CM000665.2:g.38894739T>C	GRCh38
NC_000003.11:g.38936230T>C , CM000665.1:g.38936230T>C	GRCh37
NC_000003.10:g.38911234T>C	NCBI36
NG_033859.1:g.60823A>G
NG_033859.2:g.162248A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2629A>G MANE Select	ENSP00000307599.3:p.Ser877Gly
ENST00000668754.1:c.2629A>G	ENSP00000499569.1:p.Ser877Gly
ENST00000675223.1:c.2629A>G	ENSP00000502481.1:p.Ser877Gly
ENST00000675672.1:c.2629A>G	ENSP00000502446.1:p.Ser877Gly
ENST00000675892.1:c.2449A>G	ENSP00000502318.1:p.Ser817Gly
ENST00000676045.1:c.2673A>G	ENSP00000501685.1:n.2673A>G
ENST00000676176.1:c.2248A>G	ENSP00000501891.1:p.Ser750Gly
ENST00000302328.7:c.2629A>G	ENSP00000307599.3:p.Ser877Gly
ENST00000444237.2:c.2629A>G	ENSP00000408028.2:p.Ser877Gly
ENST00000456224.7:c.2629A>G	ENSP00000416757.3:p.Ser877Gly
NM_001287223.1:c.2629A>G	NP_001274152.1:p.Ser877Gly
NM_014139.2:c.2629A>G	NP_054858.2:p.Ser877Gly
XM_011533320.1:c.2629A>G	XP_011531622.1:p.Ser877Gly
XM_011533321.1:c.1966A>G	XP_011531623.1:p.Ser656Gly
XM_011533322.1:c.1177A>G	XP_011531624.1:p.Ser393Gly
NM_001349253.1:c.2629A>G	NP_001336182.1:p.Ser877Gly
XM_011533321.2:c.1966A>G	XP_011531623.1:p.Ser656Gly
XM_017005647.1:c.3004A>G	XP_016861136.1:p.Ser1002Gly
XM_017005648.1:c.2431A>G	XP_016861137.1:p.Ser811Gly
XM_017005650.1:c.2629A>G	XP_016861139.1:p.Ser877Gly
XM_017005651.1:c.2356A>G	XP_016861140.1:p.Ser786Gly
XM_017005652.1:c.2629A>G	XP_016861141.1:p.Ser877Gly
XM_017005653.1:c.1033A>G	XP_016861142.1:p.Ser345Gly
NM_001349253.2:c.2629A>G MANE Select	NP_001336182.1:p.Ser877Gly
NM_014139.3:c.2629A>G	NP_054858.2:p.Ser877Gly