Canonical Allele Identifier: CA369654201

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351913-G-A
• MyVariant Identifiers: chr7:g.143049006G>A (hg19) ; chr7:g.143351913G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351913G>A , CM000669.2:g.143351913G>A	GRCh38
NC_000007.13:g.143049006G>A , CM000669.1:g.143049006G>A	GRCh37
NC_000007.12:g.142759128G>A	NCBI36
NG_009815.1:g.40788G>A
NG_009815.2:g.40788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2915G>A	ENSP00000498052.2:p.Gly972Asp
ENST00000343257.7:c.2915G>A MANE Select	ENSP00000339867.2:p.Gly972Asp
ENST00000343257.6:c.2915G>A	ENSP00000339867.2:p.Gly972Asp
NM_000083.2:c.2915G>A	NP_000074.2:p.Gly972Asp
NR_046453.1:n.2855G>A
XM_011515781.1:c.2939G>A	XP_011514083.1:p.Gly980Asp
XM_011515782.1:c.1661G>A	XP_011514084.1:p.Gly554Asp
XM_011515782.2:c.1661G>A	XP_011514084.1:p.Gly554Asp
XM_017011739.1:c.2489G>A	XP_016867228.1:p.Gly830Asp
XM_017011740.1:c.2465G>A	XP_016867229.1:p.Gly822Asp
NM_000083.3:c.2915G>A MANE Select	NP_000074.3:p.Gly972Asp
NR_046453.2:n.2870G>A