Canonical Allele Identifier: CA369653625

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2924338
• ClinVar RCV Id: RCV003786088
• MyVariant Identifiers: chr7:g.143048786G>A (hg19) ; chr7:g.143351693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351693G>A , CM000669.2:g.143351693G>A	GRCh38
NC_000007.13:g.143048786G>A , CM000669.1:g.143048786G>A	GRCh37
NC_000007.12:g.142758908G>A	NCBI36
NG_009815.1:g.40568G>A
NG_009815.2:g.40568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2695G>A	ENSP00000498052.2:p.Ala899Thr
ENST00000343257.7:c.2695G>A MANE Select	ENSP00000339867.2:p.Ala899Thr
ENST00000432192.6:c.2519G>A
ENST00000343257.6:c.2695G>A	ENSP00000339867.2:p.Ala899Thr
NM_000083.2:c.2695G>A	NP_000074.2:p.Ala899Thr
NR_046453.1:n.2635G>A
XM_011515781.1:c.2719G>A	XP_011514083.1:p.Ala907Thr
XM_011515782.1:c.1441G>A	XP_011514084.1:p.Ala481Thr
XM_011515782.2:c.1441G>A	XP_011514084.1:p.Ala481Thr
XM_017011739.1:c.2269G>A	XP_016867228.1:p.Ala757Thr
XM_017011740.1:c.2245G>A	XP_016867229.1:p.Ala749Thr
NM_000083.3:c.2695G>A MANE Select	NP_000074.3:p.Ala899Thr
NR_046453.2:n.2650G>A