Canonical Allele Identifier: CA458283229

Gene: CLCN1

Linked Data

• dbSNP Id: rs200676193
• gnomAD v2: 7-143039044-C-A
• gnomAD v4: 7-143341951-C-A
• MyVariant Identifiers: chr7:g.143039044C>A (hg19) ; chr7:g.143341951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341951C>A , CM000669.2:g.143341951C>A	GRCh38
NC_000007.13:g.143039044C>A , CM000669.1:g.143039044C>A	GRCh37
NC_000007.12:g.142749166C>A	NCBI36
NG_009815.1:g.30826C>A
NG_009815.2:g.30826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1605C>A	ENSP00000498052.2:p.Ala535=
ENST00000343257.7:c.1605C>A MANE Select	ENSP00000339867.2:p.Ala535=
ENST00000432192.6:c.1429C>A
ENST00000343257.6:c.1605C>A	ENSP00000339867.2:p.Ala535=
NM_000083.2:c.1605C>A	NP_000074.2:p.Ala535=
NR_046453.1:n.1545C>A
XM_011515781.1:c.1629C>A	XP_011514083.1:p.Ala543=
XM_011515782.1:c.351C>A	XP_011514084.1:p.Ala117=
XM_011515782.2:c.351C>A	XP_011514084.1:p.Ala117=
XM_017011739.1:c.1179C>A	XP_016867228.1:p.Ala393=
XM_017011740.1:c.1155C>A	XP_016867229.1:p.Ala385=
NM_000083.3:c.1605C>A MANE Select	NP_000074.3:p.Ala535=
NR_046453.2:n.1560C>A