Canonical Allele Identifier: CA611946207

Gene: NALCN

Linked Data

• dbSNP Id: rs1245881101
• gnomAD v2: 13-101736020-C-A
• gnomAD v4: 13-101083669-C-A
• MyVariant Identifiers: chr13:g.101736020C>A (hg19) ; chr13:g.101083669C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101083669C>A , CM000675.2:g.101083669C>A	GRCh38
NC_000013.10:g.101736020C>A , CM000675.1:g.101736020C>A	GRCh37
NC_000013.9:g.100534021C>A	NCBI36
NG_053176.1:g.338538G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3583+42G>T MANE Select	ENSP00000251127.6:n.3583+42G>T
ENST00000648359.1:c.3583+42G>T	ENSP00000497465.1:n.3583+42G>T
ENST00000675150.1:c.3304+42G>T	ENSP00000502680.1:n.3304+42G>T
ENST00000675332.1:c.3670+42G>T	ENSP00000501955.1:n.3670+42G>T
ENST00000676315.1:c.3496+42G>T	ENSP00000501603.1:n.3496+42G>T
ENST00000251127.10:c.3583+42G>T	ENSP00000251127.6:n.3583+42G>T
NM_052867.2:c.3583+42G>T	NP_443099.1:n.3583+42G>T
XM_011521067.1:c.3640+42G>T	XP_011519369.1:n.3640+42G>T
XM_011521068.1:c.3583+42G>T	XP_011519370.1:n.3583+42G>T
XM_011521069.1:c.3553+42G>T	XP_011519371.1:n.3553+42G>T
XM_011521070.1:c.3361+42G>T	XP_011519372.1:n.3361+42G>T
NM_001350748.1:c.3670+42G>T	NP_001337677.1:n.3670+42G>T
NM_001350749.1:c.3583+42G>T	NP_001337678.1:n.3583+42G>T
NM_001350750.1:c.3496+42G>T	NP_001337679.1:n.3496+42G>T
NM_001350751.1:c.3496+42G>T	NP_001337680.1:n.3496+42G>T
NM_052867.3:c.3583+42G>T	NP_443099.1:n.3583+42G>T
XM_011521067.2:c.3640+42G>T	XP_011519369.1:n.3640+42G>T
XM_011521069.2:c.3553+42G>T	XP_011519371.1:n.3553+42G>T
XM_017020536.2:c.3136+42G>T	XP_016876025.1:n.3136+42G>T
XM_017020537.1:c.2818+42G>T	XP_016876026.1:n.2818+42G>T
XM_024449336.1:c.3727+42G>T	XP_024305104.1:n.3727+42G>T
NM_052867.4:c.3583+42G>T MANE Select	NP_443099.1:n.3583+42G>T
NM_001350748.2:c.3670+42G>T	NP_001337677.1:n.3670+42G>T
NM_001350749.2:c.3583+42G>T	NP_001337678.1:n.3583+42G>T
NM_001350750.2:c.3496+42G>T	NP_001337679.1:n.3496+42G>T
NM_001350751.2:c.3496+42G>T	NP_001337680.1:n.3496+42G>T