Canonical Allele Identifier: CA369653718

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048831C>A (hg19) ; chr7:g.143351738C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351738C>A , CM000669.2:g.143351738C>A	GRCh38
NC_000007.13:g.143048831C>A , CM000669.1:g.143048831C>A	GRCh37
NC_000007.12:g.142758953C>A	NCBI36
NG_009815.1:g.40613C>A
NG_009815.2:g.40613C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2740C>A	ENSP00000498052.2:p.Pro914Thr
ENST00000343257.7:c.2740C>A MANE Select	ENSP00000339867.2:p.Pro914Thr
ENST00000343257.6:c.2740C>A	ENSP00000339867.2:p.Pro914Thr
NM_000083.2:c.2740C>A	NP_000074.2:p.Pro914Thr
NR_046453.1:n.2680C>A
XM_011515781.1:c.2764C>A	XP_011514083.1:p.Pro922Thr
XM_011515782.1:c.1486C>A	XP_011514084.1:p.Pro496Thr
XM_011515782.2:c.1486C>A	XP_011514084.1:p.Pro496Thr
XM_017011739.1:c.2314C>A	XP_016867228.1:p.Pro772Thr
XM_017011740.1:c.2290C>A	XP_016867229.1:p.Pro764Thr
NM_000083.3:c.2740C>A MANE Select	NP_000074.3:p.Pro914Thr
NR_046453.2:n.2695C>A