Canonical Allele Identifier: CA352174548

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38936148G>A (hg19) ; chr3:g.38894657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894657G>A , CM000665.2:g.38894657G>A	GRCh38
NC_000003.11:g.38936148G>A , CM000665.1:g.38936148G>A	GRCh37
NC_000003.10:g.38911152G>A	NCBI36
NG_033859.1:g.60905C>T
NG_033859.2:g.162330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2711C>T MANE Select	ENSP00000307599.3:p.Pro904Leu
ENST00000668754.1:c.2711C>T	ENSP00000499569.1:p.Pro904Leu
ENST00000675223.1:c.2711C>T	ENSP00000502481.1:p.Pro904Leu
ENST00000675672.1:c.2711C>T	ENSP00000502446.1:p.Pro904Leu
ENST00000675892.1:c.2531C>T	ENSP00000502318.1:p.Pro844Leu
ENST00000676045.1:c.2755C>T	ENSP00000501685.1:n.2755C>T
ENST00000676176.1:c.2330C>T	ENSP00000501891.1:p.Pro777Leu
ENST00000302328.7:c.2711C>T	ENSP00000307599.3:p.Pro904Leu
ENST00000444237.2:c.2711C>T	ENSP00000408028.2:p.Pro904Leu
ENST00000456224.7:c.2711C>T	ENSP00000416757.3:p.Pro904Leu
NM_001287223.1:c.2711C>T	NP_001274152.1:p.Pro904Leu
NM_014139.2:c.2711C>T	NP_054858.2:p.Pro904Leu
XM_011533320.1:c.2711C>T	XP_011531622.1:p.Pro904Leu
XM_011533321.1:c.2048C>T	XP_011531623.1:p.Pro683Leu
XM_011533322.1:c.1259C>T	XP_011531624.1:p.Pro420Leu
NM_001349253.1:c.2711C>T	NP_001336182.1:p.Pro904Leu
XM_011533321.2:c.2048C>T	XP_011531623.1:p.Pro683Leu
XM_017005647.1:c.3086C>T	XP_016861136.1:p.Pro1029Leu
XM_017005648.1:c.2513C>T	XP_016861137.1:p.Pro838Leu
XM_017005650.1:c.2711C>T	XP_016861139.1:p.Pro904Leu
XM_017005651.1:c.2438C>T	XP_016861140.1:p.Pro813Leu
XM_017005652.1:c.2711C>T	XP_016861141.1:p.Pro904Leu
XM_017005653.1:c.1115C>T	XP_016861142.1:p.Pro372Leu
NM_001349253.2:c.2711C>T MANE Select	NP_001336182.1:p.Pro904Leu
NM_014139.3:c.2711C>T	NP_054858.2:p.Pro904Leu