Canonical Allele Identifier: CA369654024

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803421436
• gnomAD v4: 7-143351868-T-C
• MyVariant Identifiers: chr7:g.143048961T>C (hg19) ; chr7:g.143351868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351868T>C , CM000669.2:g.143351868T>C	GRCh38
NC_000007.13:g.143048961T>C , CM000669.1:g.143048961T>C	GRCh37
NC_000007.12:g.142759083T>C	NCBI36
NG_009815.1:g.40743T>C
NG_009815.2:g.40743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2870T>C	ENSP00000498052.2:p.Val957Ala
ENST00000343257.7:c.2870T>C MANE Select	ENSP00000339867.2:p.Val957Ala
ENST00000343257.6:c.2870T>C	ENSP00000339867.2:p.Val957Ala
NM_000083.2:c.2870T>C	NP_000074.2:p.Val957Ala
NR_046453.1:n.2810T>C
XM_011515781.1:c.2894T>C	XP_011514083.1:p.Val965Ala
XM_011515782.1:c.1616T>C	XP_011514084.1:p.Val539Ala
XM_011515782.2:c.1616T>C	XP_011514084.1:p.Val539Ala
XM_017011739.1:c.2444T>C	XP_016867228.1:p.Val815Ala
XM_017011740.1:c.2420T>C	XP_016867229.1:p.Val807Ala
NM_000083.3:c.2870T>C MANE Select	NP_000074.3:p.Val957Ala
NR_046453.2:n.2825T>C