Canonical Allele Identifier: CA255407075

Gene: NALCN

Linked Data

• dbSNP Id: rs556903782
• gnomAD v2: 13-101733906-A-G
• gnomAD v3: 13-101081555-A-G
• gnomAD v4: 13-101081555-A-G
• MyVariant Identifiers: chr13:g.101733906A>G (hg19) ; chr13:g.101081555A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081555A>G , CM000675.2:g.101081555A>G	GRCh38
NC_000013.10:g.101733906A>G , CM000675.1:g.101733906A>G	GRCh37
NC_000013.9:g.100531907A>G	NCBI36
NG_053176.1:g.340652T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3857T>C MANE Select	ENSP00000251127.6:p.Val1286Ala
ENST00000648359.1:c.3857T>C	ENSP00000497465.1:p.Val1286Ala
ENST00000675150.1:c.3578T>C	ENSP00000502680.1:p.Val1193Ala
ENST00000675332.1:c.3944T>C	ENSP00000501955.1:p.Val1315Ala
ENST00000676315.1:c.3770T>C	ENSP00000501603.1:p.Val1257Ala
ENST00000251127.10:c.3857T>C	ENSP00000251127.6:p.Val1286Ala
NM_052867.2:c.3857T>C	NP_443099.1:p.Val1286Ala
XM_011521067.1:c.3914T>C	XP_011519369.1:p.Val1305Ala
XM_011521068.1:c.3857T>C	XP_011519370.1:p.Val1286Ala
XM_011521069.1:c.3827T>C	XP_011519371.1:p.Val1276Ala
XM_011521070.1:c.3635T>C	XP_011519372.1:p.Val1212Ala
NM_001350748.1:c.3944T>C	NP_001337677.1:p.Val1315Ala
NM_001350749.1:c.3857T>C	NP_001337678.1:p.Val1286Ala
NM_001350750.1:c.3770T>C	NP_001337679.1:p.Val1257Ala
NM_001350751.1:c.3770T>C	NP_001337680.1:p.Val1257Ala
NM_052867.3:c.3857T>C	NP_443099.1:p.Val1286Ala
XM_011521067.2:c.3914T>C	XP_011519369.1:p.Val1305Ala
XM_011521069.2:c.3827T>C	XP_011519371.1:p.Val1276Ala
XM_017020536.2:c.3410T>C	XP_016876025.1:p.Val1137Ala
XM_017020537.1:c.3092T>C	XP_016876026.1:p.Val1031Ala
XM_024449336.1:c.4001T>C	XP_024305104.1:p.Val1334Ala
NM_052867.4:c.3857T>C MANE Select	NP_443099.1:p.Val1286Ala
NM_001350748.2:c.3944T>C	NP_001337677.1:p.Val1315Ala
NM_001350749.2:c.3857T>C	NP_001337678.1:p.Val1286Ala
NM_001350750.2:c.3770T>C	NP_001337679.1:p.Val1257Ala
NM_001350751.2:c.3770T>C	NP_001337680.1:p.Val1257Ala