Canonical Allele Identifier: CA4537798

Gene: CLCN1

Linked Data

• dbSNP Id: rs773471003
• ExAC: 7:143048931 T / C
• gnomAD v2: 7-143048931-T-C
• gnomAD v4: 7-143351838-T-C
• MyVariant Identifiers: chr7:g.143048931T>C (hg19) ; chr7:g.143351838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351838T>C , CM000669.2:g.143351838T>C	GRCh38
NC_000007.13:g.143048931T>C , CM000669.1:g.143048931T>C	GRCh37
NC_000007.12:g.142759053T>C	NCBI36
NG_009815.1:g.40713T>C
NG_009815.2:g.40713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2840T>C	ENSP00000498052.2:p.Val947Ala
ENST00000343257.7:c.2840T>C MANE Select	ENSP00000339867.2:p.Val947Ala
ENST00000343257.6:c.2840T>C	ENSP00000339867.2:p.Val947Ala
NM_000083.2:c.2840T>C	NP_000074.2:p.Val947Ala
NR_046453.1:n.2780T>C
XM_011515781.1:c.2864T>C	XP_011514083.1:p.Val955Ala
XM_011515782.1:c.1586T>C	XP_011514084.1:p.Val529Ala
XM_011515782.2:c.1586T>C	XP_011514084.1:p.Val529Ala
XM_017011739.1:c.2414T>C	XP_016867228.1:p.Val805Ala
XM_017011740.1:c.2390T>C	XP_016867229.1:p.Val797Ala
NM_000083.3:c.2840T>C MANE Select	NP_000074.3:p.Val947Ala
NR_046453.2:n.2795T>C