Canonical Allele Identifier: CA388671559

Gene: NALCN

Linked Data

• dbSNP Id: rs2037180736
• MyVariant Identifiers: chr13:g.101795551A>T (hg19) ; chr13:g.101143200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143200A>T , CM000675.2:g.101143200A>T	GRCh38
NC_000013.10:g.101795551A>T , CM000675.1:g.101795551A>T	GRCh37
NC_000013.9:g.100593552A>T	NCBI36
NG_053176.1:g.279007T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.1998T>A MANE Select	ENSP00000251127.6:p.Phe666Leu
ENST00000467264.2:c.190T>A
ENST00000648359.1:c.1998T>A	ENSP00000497465.1:p.Phe666Leu
ENST00000675150.1:c.1840-18519T>A	ENSP00000502680.1:n.1840-18519T>A
ENST00000675332.1:c.1998T>A	ENSP00000501955.1:p.Phe666Leu
ENST00000675802.1:c.1998T>A	ENSP00000501818.1:p.Phe666Leu
ENST00000676315.1:c.1911T>A	ENSP00000501603.1:p.Phe637Leu
ENST00000251127.10:c.1998T>A	ENSP00000251127.6:p.Phe666Leu
ENST00000467264.1:n.22T>A
ENST00000497170.5:n.2152T>A
NM_052867.2:c.1998T>A	NP_443099.1:p.Phe666Leu
XM_011521067.1:c.2055T>A	XP_011519369.1:p.Phe685Leu
XM_011521068.1:c.1998T>A	XP_011519370.1:p.Phe666Leu
XM_011521069.1:c.1968T>A	XP_011519371.1:p.Phe656Leu
XM_011521070.1:c.1897-18519T>A	XP_011519372.1:n.1897-18519T>A
NM_001350748.1:c.1998T>A	NP_001337677.1:p.Phe666Leu
NM_001350749.1:c.1998T>A	NP_001337678.1:p.Phe666Leu
NM_001350750.1:c.1911T>A	NP_001337679.1:p.Phe637Leu
NM_001350751.1:c.1911T>A	NP_001337680.1:p.Phe637Leu
NM_052867.3:c.1998T>A	NP_443099.1:p.Phe666Leu
XM_011521067.2:c.2055T>A	XP_011519369.1:p.Phe685Leu
XM_011521069.2:c.1968T>A	XP_011519371.1:p.Phe656Leu
XM_017020536.2:c.1551T>A	XP_016876025.1:p.Phe517Leu
XM_017020537.1:c.1233T>A	XP_016876026.1:p.Phe411Leu
XM_024449336.1:c.2055T>A	XP_024305104.1:p.Phe685Leu
NM_052867.4:c.1998T>A MANE Select	NP_443099.1:p.Phe666Leu
NM_001350748.2:c.1998T>A	NP_001337677.1:p.Phe666Leu
NM_001350749.2:c.1998T>A	NP_001337678.1:p.Phe666Leu
NM_001350750.2:c.1911T>A	NP_001337679.1:p.Phe637Leu
NM_001350751.2:c.1911T>A	NP_001337680.1:p.Phe637Leu