Canonical Allele Identifier: CA369654292

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803424862
• gnomAD v3: 7-143351940-A-G
• gnomAD v4: 7-143351940-A-G
• MyVariant Identifiers: chr7:g.143049033A>G (hg19) ; chr7:g.143351940A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351940A>G , CM000669.2:g.143351940A>G	GRCh38
NC_000007.13:g.143049033A>G , CM000669.1:g.143049033A>G	GRCh37
NC_000007.12:g.142759155A>G	NCBI36
NG_009815.1:g.40815A>G
NG_009815.2:g.40815A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2942A>G	ENSP00000498052.2:p.Glu981Gly
ENST00000343257.7:c.2942A>G MANE Select	ENSP00000339867.2:p.Glu981Gly
ENST00000343257.6:c.2942A>G	ENSP00000339867.2:p.Glu981Gly
NM_000083.2:c.2942A>G	NP_000074.2:p.Glu981Gly
NR_046453.1:n.2882A>G
XM_011515781.1:c.2966A>G	XP_011514083.1:p.Glu989Gly
XM_011515782.1:c.1688A>G	XP_011514084.1:p.Glu563Gly
XM_011515782.2:c.1688A>G	XP_011514084.1:p.Glu563Gly
XM_017011739.1:c.2516A>G	XP_016867228.1:p.Glu839Gly
XM_017011740.1:c.2492A>G	XP_016867229.1:p.Glu831Gly
NM_000083.3:c.2942A>G MANE Select	NP_000074.3:p.Glu981Gly
NR_046453.2:n.2897A>G