Canonical Allele Identifier: CA458282919

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036641C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339548C>G , CM000669.2:g.143339548C>G	GRCh38
NC_000007.13:g.143036641C>G , CM000669.1:g.143036641C>G	GRCh37
NC_000007.12:g.142746763C>G	NCBI36
NG_009815.1:g.28423C>G
NG_009815.2:g.28423C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1509C>G	ENSP00000498052.2:p.Ala503=
ENST00000343257.7:c.1509C>G MANE Select	ENSP00000339867.2:p.Ala503=
ENST00000432192.6:c.1333C>G
ENST00000343257.6:c.1509C>G	ENSP00000339867.2:p.Ala503=
NM_000083.2:c.1509C>G	NP_000074.2:p.Ala503=
NR_046453.1:n.1449C>G
XM_011515781.1:c.1533C>G	XP_011514083.1:p.Ala511=
XM_011515782.1:c.255C>G	XP_011514084.1:p.Ala85=
XM_011515782.2:c.255C>G	XP_011514084.1:p.Ala85=
XM_017011739.1:c.1083C>G	XP_016867228.1:p.Ala361=
XM_017011740.1:c.1059C>G	XP_016867229.1:p.Ala353=
NM_000083.3:c.1509C>G MANE Select	NP_000074.3:p.Ala503=
NR_046453.2:n.1464C>G