Canonical Allele Identifier: CA369684218

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018810T>G (hg19) ; chr7:g.143321717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321717T>G , CM000669.2:g.143321717T>G	GRCh38
NC_000007.13:g.143018810T>G , CM000669.1:g.143018810T>G	GRCh37
NC_000007.12:g.142728932T>G	NCBI36
NG_009815.1:g.10592T>G
NG_009815.2:g.10592T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.565T>G	ENSP00000498052.2:p.Ser189Ala
ENST00000343257.7:c.565T>G MANE Select	ENSP00000339867.2:p.Ser189Ala
ENST00000432192.6:c.333T>G
ENST00000455478.6:c.19T>G	ENSP00000400027.2:p.Ser7Ala
ENST00000650516.1:c.565T>G	ENSP00000498052.1:p.Ser189Ala
ENST00000343257.6:c.565T>G	ENSP00000339867.2:p.Ser189Ala
ENST00000432192.5:c.23T>G
ENST00000455478.5:c.23T>G
ENST00000495612.1:n.23T>G
NM_000083.2:c.565T>G	NP_000074.2:p.Ser189Ala
NR_046453.1:n.652T>G
XM_011515781.1:c.565T>G	XP_011514083.1:p.Ser189Ala
XM_017011739.1:c.272T>G	XP_016867228.1:p.Leu91Arg
XM_017011740.1:c.272T>G	XP_016867229.1:p.Leu91Arg
NM_000083.3:c.565T>G MANE Select	NP_000074.3:p.Ser189Ala
NR_046453.2:n.667T>G