Canonical Allele Identifier: CA12523741

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1279554
• ClinVar RCV Id: RCV001693127
• dbSNP Id: rs6464542
• gnomAD v2: 7-143036548-T-A
• gnomAD v3: 7-143339455-T-A
• gnomAD v4: 7-143339455-T-A
• MyVariant Identifiers: chr7:g.143036548T>A (hg19) ; chr7:g.143339455T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339455T>A , CM000669.2:g.143339455T>A	GRCh38
NC_000007.13:g.143036548T>A , CM000669.1:g.143036548T>A	GRCh37
NC_000007.12:g.142746670T>A	NCBI36
NG_009815.1:g.28330T>A
NG_009815.2:g.28330T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1472-56T>A	ENSP00000498052.2:n.1472-56T>A
ENST00000343257.7:c.1472-56T>A MANE Select	ENSP00000339867.2:n.1472-56T>A
ENST00000432192.6:c.1296-56T>A
ENST00000343257.6:c.1472-56T>A	ENSP00000339867.2:n.1472-56T>A
NM_000083.2:c.1472-56T>A	NP_000074.2:n.1472-56T>A
NR_046453.1:n.1412-56T>A
XM_011515781.1:c.1496-56T>A	XP_011514083.1:n.1496-56T>A
XM_011515782.1:c.218-56T>A	XP_011514084.1:n.218-56T>A
XM_011515782.2:c.218-56T>A	XP_011514084.1:n.218-56T>A
XM_017011739.1:c.1046-56T>A	XP_016867228.1:n.1046-56T>A
XM_017011740.1:c.1022-56T>A	XP_016867229.1:n.1022-56T>A
NM_000083.3:c.1472-56T>A MANE Select	NP_000074.3:n.1472-56T>A
NR_046453.2:n.1427-56T>A