Canonical Allele Identifier: CA369653888

Gene: CLCN1

Linked Data

• dbSNP Id: rs1366723815
• gnomAD v2: 7-143048919-C-A
• gnomAD v4: 7-143351826-C-A
• MyVariant Identifiers: chr7:g.143048919C>A (hg19) ; chr7:g.143351826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351826C>A , CM000669.2:g.143351826C>A	GRCh38
NC_000007.13:g.143048919C>A , CM000669.1:g.143048919C>A	GRCh37
NC_000007.12:g.142759041C>A	NCBI36
NG_009815.1:g.40701C>A
NG_009815.2:g.40701C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2828C>A	ENSP00000498052.2:p.Ala943Asp
ENST00000343257.7:c.2828C>A MANE Select	ENSP00000339867.2:p.Ala943Asp
ENST00000343257.6:c.2828C>A	ENSP00000339867.2:p.Ala943Asp
NM_000083.2:c.2828C>A	NP_000074.2:p.Ala943Asp
NR_046453.1:n.2768C>A
XM_011515781.1:c.2852C>A	XP_011514083.1:p.Ala951Asp
XM_011515782.1:c.1574C>A	XP_011514084.1:p.Ala525Asp
XM_011515782.2:c.1574C>A	XP_011514084.1:p.Ala525Asp
XM_017011739.1:c.2402C>A	XP_016867228.1:p.Ala801Asp
XM_017011740.1:c.2378C>A	XP_016867229.1:p.Ala793Asp
NM_000083.3:c.2828C>A MANE Select	NP_000074.3:p.Ala943Asp
NR_046453.2:n.2783C>A