Canonical Allele Identifier: CA369643576

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1001036
• ClinVar RCV Id: RCV001297259
• dbSNP Id: rs1023099235
• MyVariant Identifiers: chr7:g.143029588G>A (hg19) ; chr7:g.143332495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332495G>A , CM000669.2:g.143332495G>A	GRCh38
NC_000007.13:g.143029588G>A , CM000669.1:g.143029588G>A	GRCh37
NC_000007.12:g.142739710G>A	NCBI36
NG_009815.1:g.21370G>A
NG_009815.2:g.21370G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1243G>A	ENSP00000498052.2:p.Ala415Thr
ENST00000343257.7:c.1243G>A MANE Select	ENSP00000339867.2:p.Ala415Thr
ENST00000432192.6:c.1067G>A
ENST00000343257.6:c.1243G>A	ENSP00000339867.2:p.Ala415Thr
NM_000083.2:c.1243G>A	NP_000074.2:p.Ala415Thr
NR_046453.1:n.1333G>A
XM_011515781.1:c.1243G>A	XP_011514083.1:p.Ala415Thr
XM_011515782.1:c.-3-229G>A	XP_011514084.1:n.-3-229G>A
XM_011515782.2:c.-3-229G>A	XP_011514084.1:n.-3-229G>A
XM_017011739.1:c.793G>A	XP_016867228.1:p.Ala265Thr
XM_017011740.1:c.793G>A	XP_016867229.1:p.Ala265Thr
NM_000083.3:c.1243G>A MANE Select	NP_000074.3:p.Ala415Thr
NR_046453.2:n.1348G>A