Canonical Allele Identifier: CA198512
Gene: NALCN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 187773
ClinVar RCV Id: RCV000167530
dbSNP Id: rs786203986

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101176371G>A , CM000675.2:g.101176371G>A GRCh38
NC_000013.10:g.101828722G>A , CM000675.1:g.101828722G>A GRCh37
NC_000013.9:g.100626723G>A NCBI36
NG_053176.1:g.245836C>T

Transcript Alleles

HGVS Amino-acid change
NM_052867.2:c.1768C>T VV NP_443099.1:p.Leu590Phe
XM_011521067.1:c.1825C>T XP_011519369.1:p.Leu609Phe
XM_011521068.1:c.1768C>T XP_011519370.1:p.Leu590Phe
XM_011521069.1:c.1738C>T XP_011519371.1:p.Leu580Phe
XM_011521070.1:c.1825C>T XP_011519372.1:p.Leu609Phe
NM_001350748.1:c.1768C>T VV NP_001337677.1:p.Leu590Phe
NM_001350749.1:c.1768C>T VV NP_001337678.1:p.Leu590Phe
NM_001350750.1:c.1681C>T VV NP_001337679.1:p.Leu561Phe
NM_001350751.1:c.1681C>T VV NP_001337680.1:p.Leu561Phe
NM_052867.3:c.1768C>T VV NP_443099.1:p.Leu590Phe
XM_011521067.2:c.1825C>T XP_011519369.1:p.Leu609Phe
XM_011521069.2:c.1738C>T XP_011519371.1:p.Leu580Phe
XM_017020536.2:c.1321C>T XP_016876025.1:p.Leu441Phe
XM_017020537.1:c.1003C>T XP_016876026.1:p.Leu335Phe
XM_024449336.1:c.1825C>T XP_024305104.1:p.Leu609Phe
NM_052867.4:c.1768C>T VV MANE Preferred NP_443099.1:p.Leu590Phe
ENST00000251127.10:c.1768C>T ENSP00000251127.6:p.Leu590Phe
ENST00000497170.5:n.1922C>T