Canonical Allele Identifier: CA388669218

Gene: NALCN

Linked Data

• gnomAD v4: 13-101103219-T-A
• MyVariant Identifiers: chr13:g.101755570T>A (hg19) ; chr13:g.101103219T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101103219T>A , CM000675.2:g.101103219T>A	GRCh38
NC_000013.10:g.101755570T>A , CM000675.1:g.101755570T>A	GRCh37
NC_000013.9:g.100553571T>A	NCBI36
NG_053176.1:g.318988A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3010A>T MANE Select	ENSP00000251127.6:p.Arg1004Trp
ENST00000648359.1:c.3010A>T	ENSP00000497465.1:p.Arg1004Trp
ENST00000675150.1:c.2731A>T	ENSP00000502680.1:p.Arg911Trp
ENST00000675332.1:c.3097A>T	ENSP00000501955.1:p.Arg1033Trp
ENST00000676315.1:c.2923A>T	ENSP00000501603.1:p.Arg975Trp
ENST00000251127.10:c.3010A>T	ENSP00000251127.6:p.Arg1004Trp
NM_052867.2:c.3010A>T	NP_443099.1:p.Arg1004Trp
XM_011521067.1:c.3067A>T	XP_011519369.1:p.Arg1023Trp
XM_011521068.1:c.3010A>T	XP_011519370.1:p.Arg1004Trp
XM_011521069.1:c.2980A>T	XP_011519371.1:p.Arg994Trp
XM_011521070.1:c.2788A>T	XP_011519372.1:p.Arg930Trp
NM_001350748.1:c.3097A>T	NP_001337677.1:p.Arg1033Trp
NM_001350749.1:c.3010A>T	NP_001337678.1:p.Arg1004Trp
NM_001350750.1:c.2923A>T	NP_001337679.1:p.Arg975Trp
NM_001350751.1:c.2923A>T	NP_001337680.1:p.Arg975Trp
NM_052867.3:c.3010A>T	NP_443099.1:p.Arg1004Trp
XM_011521067.2:c.3067A>T	XP_011519369.1:p.Arg1023Trp
XM_011521069.2:c.2980A>T	XP_011519371.1:p.Arg994Trp
XM_017020536.2:c.2563A>T	XP_016876025.1:p.Arg855Trp
XM_017020537.1:c.2245A>T	XP_016876026.1:p.Arg749Trp
XM_024449336.1:c.3154A>T	XP_024305104.1:p.Arg1052Trp
NM_052867.4:c.3010A>T MANE Select	NP_443099.1:p.Arg1004Trp
NM_001350748.2:c.3097A>T	NP_001337677.1:p.Arg1033Trp
NM_001350749.2:c.3010A>T	NP_001337678.1:p.Arg1004Trp
NM_001350750.2:c.2923A>T	NP_001337679.1:p.Arg975Trp
NM_001350751.2:c.2923A>T	NP_001337680.1:p.Arg975Trp