Canonical Allele Identifier: CA369641680

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2935193
• ClinVar RCV Id: RCV003790847
• dbSNP Id: rs1484247994
• gnomAD v2: 7-143027955-T-C
• gnomAD v3: 7-143330862-T-C
• gnomAD v4: 7-143330862-T-C
• MyVariant Identifiers: chr7:g.143027955T>C (hg19) ; chr7:g.143330862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330862T>C , CM000669.2:g.143330862T>C	GRCh38
NC_000007.13:g.143027955T>C , CM000669.1:g.143027955T>C	GRCh37
NC_000007.12:g.142738077T>C	NCBI36
NG_009815.1:g.19737T>C
NG_009815.2:g.19737T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.944T>C	ENSP00000498052.2:p.Val315Ala
ENST00000343257.7:c.944T>C MANE Select	ENSP00000339867.2:p.Val315Ala
ENST00000432192.6:c.768T>C
ENST00000455478.6:c.532T>C	ENSP00000400027.2:n.532T>C
ENST00000650516.1:c.944T>C	ENSP00000498052.1:p.Val315Ala
ENST00000343257.6:c.944T>C	ENSP00000339867.2:p.Val315Ala
ENST00000432192.5:c.458T>C
ENST00000455478.5:c.536T>C
ENST00000495612.1:n.245T>C
NM_000083.2:c.944T>C	NP_000074.2:p.Val315Ala
NR_046453.1:n.1034T>C
XM_011515781.1:c.944T>C	XP_011514083.1:p.Val315Ala
XM_017011739.1:c.494T>C	XP_016867228.1:p.Val165Ala
XM_017011740.1:c.494T>C	XP_016867229.1:p.Val165Ala
NM_000083.3:c.944T>C MANE Select	NP_000074.3:p.Val315Ala
NR_046453.2:n.1049T>C