Canonical Allele Identifier: CA388671553

Gene: NALCN

Linked Data

• dbSNP Id: rs1222608354
• gnomAD v2: 13-101795549-A-G
• gnomAD v4: 13-101143198-A-G
• MyVariant Identifiers: chr13:g.101795549A>G (hg19) ; chr13:g.101143198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143198A>G , CM000675.2:g.101143198A>G	GRCh38
NC_000013.10:g.101795549A>G , CM000675.1:g.101795549A>G	GRCh37
NC_000013.9:g.100593550A>G	NCBI36
NG_053176.1:g.279009T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.2000T>C MANE Select	ENSP00000251127.6:p.Ile667Thr
ENST00000467264.2:c.192T>C
ENST00000648359.1:c.2000T>C	ENSP00000497465.1:p.Ile667Thr
ENST00000675150.1:c.1840-18517T>C	ENSP00000502680.1:n.1840-18517T>C
ENST00000675332.1:c.2000T>C	ENSP00000501955.1:p.Ile667Thr
ENST00000675802.1:c.2000T>C	ENSP00000501818.1:p.Ile667Thr
ENST00000676315.1:c.1913T>C	ENSP00000501603.1:p.Ile638Thr
ENST00000251127.10:c.2000T>C	ENSP00000251127.6:p.Ile667Thr
ENST00000467264.1:n.24T>C
ENST00000497170.5:n.2154T>C
NM_052867.2:c.2000T>C	NP_443099.1:p.Ile667Thr
XM_011521067.1:c.2057T>C	XP_011519369.1:p.Ile686Thr
XM_011521068.1:c.2000T>C	XP_011519370.1:p.Ile667Thr
XM_011521069.1:c.1970T>C	XP_011519371.1:p.Ile657Thr
XM_011521070.1:c.1897-18517T>C	XP_011519372.1:n.1897-18517T>C
NM_001350748.1:c.2000T>C	NP_001337677.1:p.Ile667Thr
NM_001350749.1:c.2000T>C	NP_001337678.1:p.Ile667Thr
NM_001350750.1:c.1913T>C	NP_001337679.1:p.Ile638Thr
NM_001350751.1:c.1913T>C	NP_001337680.1:p.Ile638Thr
NM_052867.3:c.2000T>C	NP_443099.1:p.Ile667Thr
XM_011521067.2:c.2057T>C	XP_011519369.1:p.Ile686Thr
XM_011521069.2:c.1970T>C	XP_011519371.1:p.Ile657Thr
XM_017020536.2:c.1553T>C	XP_016876025.1:p.Ile518Thr
XM_017020537.1:c.1235T>C	XP_016876026.1:p.Ile412Thr
XM_024449336.1:c.2057T>C	XP_024305104.1:p.Ile686Thr
NM_052867.4:c.2000T>C MANE Select	NP_443099.1:p.Ile667Thr
NM_001350748.2:c.2000T>C	NP_001337677.1:p.Ile667Thr
NM_001350749.2:c.2000T>C	NP_001337678.1:p.Ile667Thr
NM_001350750.2:c.1913T>C	NP_001337679.1:p.Ile638Thr
NM_001350751.2:c.1913T>C	NP_001337680.1:p.Ile638Thr