Canonical Allele Identifier: CA7035287

Gene: NALCN

Linked Data

• ClinVar Variation Id: 717480
• ClinVar RCV Id: RCV000890276
• dbSNP Id: rs140259967
• ExAC: 13:101733935 G / A
• gnomAD v2: 13-101733935-G-A
• gnomAD v3: 13-101081584-G-A
• gnomAD v4: 13-101081584-G-A
• MyVariant Identifiers: chr13:g.101733935G>A (hg19) ; chr13:g.101733935_101733937delinsATA (hg19) ; chr13:g.101081584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081584G>A , CM000675.2:g.101081584G>A	GRCh38
NC_000013.10:g.101733935G>A , CM000675.1:g.101733935G>A	GRCh37
NC_000013.9:g.100531936G>A	NCBI36
NG_053176.1:g.340623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3828C>T MANE Select	ENSP00000251127.6:p.Tyr1276=
ENST00000648359.1:c.3828C>T	ENSP00000497465.1:p.Tyr1276=
ENST00000675150.1:c.3549C>T	ENSP00000502680.1:p.Tyr1183=
ENST00000675332.1:c.3915C>T	ENSP00000501955.1:p.Tyr1305=
ENST00000676315.1:c.3741C>T	ENSP00000501603.1:p.Tyr1247=
ENST00000251127.10:c.3828C>T	ENSP00000251127.6:p.Tyr1276=
NM_052867.2:c.3828C>T	NP_443099.1:p.Tyr1276=
XM_011521067.1:c.3885C>T	XP_011519369.1:p.Tyr1295=
XM_011521068.1:c.3828C>T	XP_011519370.1:p.Tyr1276=
XM_011521069.1:c.3798C>T	XP_011519371.1:p.Tyr1266=
XM_011521070.1:c.3606C>T	XP_011519372.1:p.Tyr1202=
NM_001350748.1:c.3915C>T	NP_001337677.1:p.Tyr1305=
NM_001350749.1:c.3828C>T	NP_001337678.1:p.Tyr1276=
NM_001350750.1:c.3741C>T	NP_001337679.1:p.Tyr1247=
NM_001350751.1:c.3741C>T	NP_001337680.1:p.Tyr1247=
NM_052867.3:c.3828C>T	NP_443099.1:p.Tyr1276=
XM_011521067.2:c.3885C>T	XP_011519369.1:p.Tyr1295=
XM_011521069.2:c.3798C>T	XP_011519371.1:p.Tyr1266=
XM_017020536.2:c.3381C>T	XP_016876025.1:p.Tyr1127=
XM_017020537.1:c.3063C>T	XP_016876026.1:p.Tyr1021=
XM_024449336.1:c.3972C>T	XP_024305104.1:p.Tyr1324=
NM_052867.4:c.3828C>T MANE Select	NP_443099.1:p.Tyr1276=
NM_001350748.2:c.3915C>T	NP_001337677.1:p.Tyr1305=
NM_001350749.2:c.3828C>T	NP_001337678.1:p.Tyr1276=
NM_001350750.2:c.3741C>T	NP_001337679.1:p.Tyr1247=
NM_001350751.2:c.3741C>T	NP_001337680.1:p.Tyr1247=