Canonical Allele Identifier: CA10581443
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 235832
ClinVar RCV Id: RCV000224534
dbSNP Id: rs878853129

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101103179A>G , CM000675.2:g.101103179A>G GRCh38
NC_000013.10:g.101755530A>G , CM000675.1:g.101755530A>G GRCh37
NC_000013.9:g.100553531A>G NCBI36
NG_053176.1:g.319028T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251127.11:c.3050T>C MANE Select ENSP00000251127.6:p.Ile1017Thr
ENST00000648359.1:c.3050T>C ENSP00000497465.1:p.Ile1017Thr
ENST00000675150.1:c.2771T>C ENSP00000502680.1:p.Ile924Thr
ENST00000675332.1:c.3137T>C ENSP00000501955.1:p.Ile1046Thr
ENST00000676315.1:c.2963T>C ENSP00000501603.1:p.Ile988Thr
ENST00000251127.10:c.3050T>C ENSP00000251127.6:p.Ile1017Thr
NM_052867.2:c.3050T>C NP_443099.1:p.Ile1017Thr
XM_011521067.1:c.3107T>C XP_011519369.1:p.Ile1036Thr
XM_011521068.1:c.3050T>C XP_011519370.1:p.Ile1017Thr
XM_011521069.1:c.3020T>C XP_011519371.1:p.Ile1007Thr
XM_011521070.1:c.2828T>C XP_011519372.1:p.Ile943Thr
NM_001350748.1:c.3137T>C NP_001337677.1:p.Ile1046Thr
NM_001350749.1:c.3050T>C NP_001337678.1:p.Ile1017Thr
NM_001350750.1:c.2963T>C NP_001337679.1:p.Ile988Thr
NM_001350751.1:c.2963T>C NP_001337680.1:p.Ile988Thr
NM_052867.3:c.3050T>C NP_443099.1:p.Ile1017Thr
XM_011521067.2:c.3107T>C XP_011519369.1:p.Ile1036Thr
XM_011521069.2:c.3020T>C XP_011519371.1:p.Ile1007Thr
XM_017020536.2:c.2603T>C XP_016876025.1:p.Ile868Thr
XM_017020537.1:c.2285T>C XP_016876026.1:p.Ile762Thr
XM_024449336.1:c.3194T>C XP_024305104.1:p.Ile1065Thr
NM_052867.4:c.3050T>C MANE Select NP_443099.1:p.Ile1017Thr
NM_001350748.2:c.3137T>C NP_001337677.1:p.Ile1046Thr
NM_001350749.2:c.3050T>C NP_001337678.1:p.Ile1017Thr
NM_001350750.2:c.2963T>C NP_001337679.1:p.Ile988Thr
NM_001350751.2:c.2963T>C NP_001337680.1:p.Ile988Thr