Canonical Allele Identifier: CA369643606

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 862321
• ClinVar RCV Id: RCV001069020
• dbSNP Id: rs1360333956
• gnomAD v2: 7-143029592-G-A
• gnomAD v4: 7-143332499-G-A
• MyVariant Identifiers: chr7:g.143029592G>A (hg19) ; chr7:g.143332499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332499G>A , CM000669.2:g.143332499G>A	GRCh38
NC_000007.13:g.143029592G>A , CM000669.1:g.143029592G>A	GRCh37
NC_000007.12:g.142739714G>A	NCBI36
NG_009815.1:g.21374G>A
NG_009815.2:g.21374G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1247G>A	ENSP00000498052.2:p.Gly416Glu
ENST00000343257.7:c.1247G>A MANE Select	ENSP00000339867.2:p.Gly416Glu
ENST00000432192.6:c.1071G>A
ENST00000343257.6:c.1247G>A	ENSP00000339867.2:p.Gly416Glu
NM_000083.2:c.1247G>A	NP_000074.2:p.Gly416Glu
NR_046453.1:n.1337G>A
XM_011515781.1:c.1247G>A	XP_011514083.1:p.Gly416Glu
XM_011515782.1:c.-3-225G>A	XP_011514084.1:n.-3-225G>A
XM_011515782.2:c.-3-225G>A	XP_011514084.1:n.-3-225G>A
XM_017011739.1:c.797G>A	XP_016867228.1:p.Gly266Glu
XM_017011740.1:c.797G>A	XP_016867229.1:p.Gly266Glu
NM_000083.3:c.1247G>A MANE Select	NP_000074.3:p.Gly416Glu
NR_046453.2:n.1352G>A