Canonical Allele Identifier: CA369684080

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018581C>A (hg19) ; chr7:g.143321488C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321488C>A , CM000669.2:g.143321488C>A	GRCh38
NC_000007.13:g.143018581C>A , CM000669.1:g.143018581C>A	GRCh37
NC_000007.12:g.142728703C>A	NCBI36
NG_009815.1:g.10363C>A
NG_009815.2:g.10363C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.557C>A	ENSP00000498052.2:p.Ala186Asp
ENST00000343257.7:c.557C>A MANE Select	ENSP00000339867.2:p.Ala186Asp
ENST00000432192.6:c.325C>A
ENST00000455478.6:c.11C>A	ENSP00000400027.2:p.Ala4Asp
ENST00000650516.1:c.557C>A	ENSP00000498052.1:p.Ala186Asp
ENST00000343257.6:c.557C>A	ENSP00000339867.2:p.Ala186Asp
ENST00000432192.5:c.15C>A
ENST00000455478.5:c.15C>A
ENST00000495612.1:n.15C>A
NM_000083.2:c.557C>A	NP_000074.2:p.Ala186Asp
NR_046453.1:n.644C>A
XM_011515781.1:c.557C>A	XP_011514083.1:p.Ala186Asp
XM_017011739.1:c.264C>A	XP_016867228.1:p.Gly88=
XM_017011740.1:c.264C>A	XP_016867229.1:p.Gly88=
NM_000083.3:c.557C>A MANE Select	NP_000074.3:p.Ala186Asp
NR_046453.2:n.659C>A