Canonical Allele Identifier: CA369684319

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018825A>G (hg19) ; chr7:g.143321732A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321732A>G , CM000669.2:g.143321732A>G	GRCh38
NC_000007.13:g.143018825A>G , CM000669.1:g.143018825A>G	GRCh37
NC_000007.12:g.142728947A>G	NCBI36
NG_009815.1:g.10607A>G
NG_009815.2:g.10607A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.580A>G	ENSP00000498052.2:p.Met194Val
ENST00000343257.7:c.580A>G MANE Select	ENSP00000339867.2:p.Met194Val
ENST00000432192.6:c.348A>G
ENST00000455478.6:c.34A>G	ENSP00000400027.2:p.Met12Val
ENST00000650516.1:c.580A>G	ENSP00000498052.1:p.Met194Val
ENST00000343257.6:c.580A>G	ENSP00000339867.2:p.Met194Val
ENST00000432192.5:c.38A>G
ENST00000455478.5:c.38A>G
ENST00000495612.1:n.38A>G
NM_000083.2:c.580A>G	NP_000074.2:p.Met194Val
NR_046453.1:n.667A>G
XM_011515781.1:c.580A>G	XP_011514083.1:p.Met194Val
XM_017011739.1:c.287A>G	XP_016867228.1:p.Asn96Ser
XM_017011740.1:c.287A>G	XP_016867229.1:p.Asn96Ser
NM_000083.3:c.580A>G MANE Select	NP_000074.3:p.Met194Val
NR_046453.2:n.682A>G