Canonical Allele Identifier: CA388650465

Gene: NALCN

Linked Data

• dbSNP Id: rs747917148
• gnomAD v3: 13-101081633-A-G
• gnomAD v4: 13-101081633-A-G
• MyVariant Identifiers: chr13:g.101733984A>G (hg19) ; chr13:g.101081633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081633A>G , CM000675.2:g.101081633A>G	GRCh38
NC_000013.10:g.101733984A>G , CM000675.1:g.101733984A>G	GRCh37
NC_000013.9:g.100531985A>G	NCBI36
NG_053176.1:g.340574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3779T>C MANE Select	ENSP00000251127.6:p.Ile1260Thr
ENST00000648359.1:c.3779T>C	ENSP00000497465.1:p.Ile1260Thr
ENST00000675150.1:c.3500T>C	ENSP00000502680.1:p.Ile1167Thr
ENST00000675332.1:c.3866T>C	ENSP00000501955.1:p.Ile1289Thr
ENST00000676315.1:c.3692T>C	ENSP00000501603.1:p.Ile1231Thr
ENST00000251127.10:c.3779T>C	ENSP00000251127.6:p.Ile1260Thr
NM_052867.2:c.3779T>C	NP_443099.1:p.Ile1260Thr
XM_011521067.1:c.3836T>C	XP_011519369.1:p.Ile1279Thr
XM_011521068.1:c.3779T>C	XP_011519370.1:p.Ile1260Thr
XM_011521069.1:c.3749T>C	XP_011519371.1:p.Ile1250Thr
XM_011521070.1:c.3557T>C	XP_011519372.1:p.Ile1186Thr
NM_001350748.1:c.3866T>C	NP_001337677.1:p.Ile1289Thr
NM_001350749.1:c.3779T>C	NP_001337678.1:p.Ile1260Thr
NM_001350750.1:c.3692T>C	NP_001337679.1:p.Ile1231Thr
NM_001350751.1:c.3692T>C	NP_001337680.1:p.Ile1231Thr
NM_052867.3:c.3779T>C	NP_443099.1:p.Ile1260Thr
XM_011521067.2:c.3836T>C	XP_011519369.1:p.Ile1279Thr
XM_011521069.2:c.3749T>C	XP_011519371.1:p.Ile1250Thr
XM_017020536.2:c.3332T>C	XP_016876025.1:p.Ile1111Thr
XM_017020537.1:c.3014T>C	XP_016876026.1:p.Ile1005Thr
XM_024449336.1:c.3923T>C	XP_024305104.1:p.Ile1308Thr
NM_052867.4:c.3779T>C MANE Select	NP_443099.1:p.Ile1260Thr
NM_001350748.2:c.3866T>C	NP_001337677.1:p.Ile1289Thr
NM_001350749.2:c.3779T>C	NP_001337678.1:p.Ile1260Thr
NM_001350750.2:c.3692T>C	NP_001337679.1:p.Ile1231Thr
NM_001350751.2:c.3692T>C	NP_001337680.1:p.Ile1231Thr