Canonical Allele Identifier: CA369641617

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 957128
• ClinVar RCV Id: RCV001230055 ; RCV001780164
• dbSNP Id: rs1802702190
• gnomAD v4: 7-143330834-T-C
• MyVariant Identifiers: chr7:g.143027927T>C (hg19) ; chr7:g.143330834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330834T>C , CM000669.2:g.143330834T>C	GRCh38
NC_000007.13:g.143027927T>C , CM000669.1:g.143027927T>C	GRCh37
NC_000007.12:g.142738049T>C	NCBI36
NG_009815.1:g.19709T>C
NG_009815.2:g.19709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.916T>C	ENSP00000498052.2:p.Phe306Leu
ENST00000343257.7:c.916T>C MANE Select	ENSP00000339867.2:p.Phe306Leu
ENST00000432192.6:c.740T>C
ENST00000455478.6:c.504T>C	ENSP00000400027.2:n.504T>C
ENST00000650516.1:c.916T>C	ENSP00000498052.1:p.Phe306Leu
ENST00000343257.6:c.916T>C	ENSP00000339867.2:p.Phe306Leu
ENST00000432192.5:c.430T>C
ENST00000455478.5:c.508T>C
ENST00000495612.1:n.217T>C
NM_000083.2:c.916T>C	NP_000074.2:p.Phe306Leu
NR_046453.1:n.1006T>C
XM_011515781.1:c.916T>C	XP_011514083.1:p.Phe306Leu
XM_017011739.1:c.466T>C	XP_016867228.1:p.Phe156Leu
XM_017011740.1:c.466T>C	XP_016867229.1:p.Phe156Leu
NM_000083.3:c.916T>C MANE Select	NP_000074.3:p.Phe306Leu
NR_046453.2:n.1021T>C