Canonical Allele Identifier: CA388705291
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101376722C>A , CM000675.2:g.101376722C>A GRCh38
NC_000013.10:g.102029073C>A , CM000675.1:g.102029073C>A GRCh37
NC_000013.9:g.100827074C>A NCBI36
NG_053176.1:g.45485G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251127.11:c.622G>T MANE Select ENSP00000251127.6:p.Val208Phe
ENST00000376200.6:c.622G>T ENSP00000365373.5:p.Val208Phe
ENST00000648359.1:c.622G>T ENSP00000497465.1:p.Val208Phe
ENST00000674840.1:n.720G>T
ENST00000674904.1:n.702G>T
ENST00000675150.1:c.622G>T ENSP00000502680.1:p.Val208Phe
ENST00000675332.1:c.622G>T ENSP00000501955.1:p.Val208Phe
ENST00000675415.1:n.805G>T
ENST00000675594.1:c.622G>T ENSP00000502490.1:p.Val208Phe
ENST00000675802.1:c.622G>T ENSP00000501818.1:p.Val208Phe
ENST00000676315.1:c.622G>T ENSP00000501603.1:p.Val208Phe
ENST00000676357.1:n.842G>T
ENST00000676439.1:n.796G>T
ENST00000251127.10:c.622G>T ENSP00000251127.6:p.Val208Phe
ENST00000376200.5:c.622G>T ENSP00000365373.5:p.Val208Phe
ENST00000470333.1:n.718G>T
ENST00000497170.5:n.811G>T
NM_052867.2:c.622G>T NP_443099.1:p.Val208Phe
XM_011521067.1:c.679G>T XP_011519369.1:p.Val227Phe
XM_011521068.1:c.622G>T XP_011519370.1:p.Val208Phe
XM_011521069.1:c.679G>T XP_011519371.1:p.Val227Phe
XM_011521070.1:c.679G>T XP_011519372.1:p.Val227Phe
NM_001350748.1:c.622G>T NP_001337677.1:p.Val208Phe
NM_001350749.1:c.622G>T NP_001337678.1:p.Val208Phe
NM_001350750.1:c.622G>T NP_001337679.1:p.Val208Phe
NM_001350751.1:c.622G>T NP_001337680.1:p.Val208Phe
NM_052867.3:c.622G>T NP_443099.1:p.Val208Phe
XM_011521067.2:c.679G>T XP_011519369.1:p.Val227Phe
XM_011521069.2:c.679G>T XP_011519371.1:p.Val227Phe
XM_024449336.1:c.679G>T XP_024305104.1:p.Val227Phe
NM_052867.4:c.622G>T MANE Select NP_443099.1:p.Val208Phe
NM_001350748.2:c.622G>T NP_001337677.1:p.Val208Phe
NM_001350749.2:c.622G>T NP_001337678.1:p.Val208Phe
NM_001350750.2:c.622G>T NP_001337679.1:p.Val208Phe
NM_001350751.2:c.622G>T NP_001337680.1:p.Val208Phe