Canonical Allele Identifier: CA369653649

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048798T>G (hg19) ; chr7:g.143351705T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351705T>G , CM000669.2:g.143351705T>G	GRCh38
NC_000007.13:g.143048798T>G , CM000669.1:g.143048798T>G	GRCh37
NC_000007.12:g.142758920T>G	NCBI36
NG_009815.1:g.40580T>G
NG_009815.2:g.40580T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2707T>G	ENSP00000498052.2:p.Ser903Ala
ENST00000343257.7:c.2707T>G MANE Select	ENSP00000339867.2:p.Ser903Ala
ENST00000432192.6:c.2531T>G
ENST00000343257.6:c.2707T>G	ENSP00000339867.2:p.Ser903Ala
NM_000083.2:c.2707T>G	NP_000074.2:p.Ser903Ala
NR_046453.1:n.2647T>G
XM_011515781.1:c.2731T>G	XP_011514083.1:p.Ser911Ala
XM_011515782.1:c.1453T>G	XP_011514084.1:p.Ser485Ala
XM_011515782.2:c.1453T>G	XP_011514084.1:p.Ser485Ala
XM_017011739.1:c.2281T>G	XP_016867228.1:p.Ser761Ala
XM_017011740.1:c.2257T>G	XP_016867229.1:p.Ser753Ala
NM_000083.3:c.2707T>G MANE Select	NP_000074.3:p.Ser903Ala
NR_046453.2:n.2662T>G