Canonical Allele Identifier: CA369646435

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 447056
• ClinVar RCV Id: RCV000518548 ; RCV003766916
• dbSNP Id: rs1554438433
• gnomAD v4: 7-143341976-G-A
• MyVariant Identifiers: chr7:g.143039069G>A (hg19) ; chr7:g.143341976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341976G>A , CM000669.2:g.143341976G>A	GRCh38
NC_000007.13:g.143039069G>A , CM000669.1:g.143039069G>A	GRCh37
NC_000007.12:g.142749191G>A	NCBI36
NG_009815.1:g.30851G>A
NG_009815.2:g.30851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1630G>A	ENSP00000498052.2:p.Val544Met
ENST00000343257.7:c.1630G>A MANE Select	ENSP00000339867.2:p.Val544Met
ENST00000432192.6:c.1454G>A
ENST00000343257.6:c.1630G>A	ENSP00000339867.2:p.Val544Met
NM_000083.2:c.1630G>A	NP_000074.2:p.Val544Met
NR_046453.1:n.1570G>A
XM_011515781.1:c.1654G>A	XP_011514083.1:p.Val552Met
XM_011515782.1:c.376G>A	XP_011514084.1:p.Val126Met
XM_011515782.2:c.376G>A	XP_011514084.1:p.Val126Met
XM_017011739.1:c.1204G>A	XP_016867228.1:p.Val402Met
XM_017011740.1:c.1180G>A	XP_016867229.1:p.Val394Met
NM_000083.3:c.1630G>A MANE Select	NP_000074.3:p.Val544Met
NR_046453.2:n.1585G>A