Canonical Allele Identifier: CA369653880

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803418597
• gnomAD v4: 7-143351823-T-A
• MyVariant Identifiers: chr7:g.143048916T>A (hg19) ; chr7:g.143351823T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351823T>A , CM000669.2:g.143351823T>A	GRCh38
NC_000007.13:g.143048916T>A , CM000669.1:g.143048916T>A	GRCh37
NC_000007.12:g.142759038T>A	NCBI36
NG_009815.1:g.40698T>A
NG_009815.2:g.40698T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2825T>A	ENSP00000498052.2:p.Leu942Gln
ENST00000343257.7:c.2825T>A MANE Select	ENSP00000339867.2:p.Leu942Gln
ENST00000343257.6:c.2825T>A	ENSP00000339867.2:p.Leu942Gln
NM_000083.2:c.2825T>A	NP_000074.2:p.Leu942Gln
NR_046453.1:n.2765T>A
XM_011515781.1:c.2849T>A	XP_011514083.1:p.Leu950Gln
XM_011515782.1:c.1571T>A	XP_011514084.1:p.Leu524Gln
XM_011515782.2:c.1571T>A	XP_011514084.1:p.Leu524Gln
XM_017011739.1:c.2399T>A	XP_016867228.1:p.Leu800Gln
XM_017011740.1:c.2375T>A	XP_016867229.1:p.Leu792Gln
NM_000083.3:c.2825T>A MANE Select	NP_000074.3:p.Leu942Gln
NR_046453.2:n.2780T>A