Canonical Allele Identifier: CA369687620

Gene: CLCN1

Linked Data

• dbSNP Id: rs1399253572
• gnomAD v2: 7-143021583-G-A
• gnomAD v4: 7-143324490-G-A
• MyVariant Identifiers: chr7:g.143021583G>A (hg19) ; chr7:g.143324490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324490G>A , CM000669.2:g.143324490G>A	GRCh38
NC_000007.13:g.143021583G>A , CM000669.1:g.143021583G>A	GRCh37
NC_000007.12:g.142731705G>A	NCBI36
NG_009815.1:g.13365G>A
NG_009815.2:g.13365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+593G>A	ENSP00000498052.2:n.853+593G>A
ENST00000343257.7:c.851G>A MANE Select	ENSP00000339867.2:p.Gly284Glu
ENST00000432192.6:c.675G>A
ENST00000455478.6:c.439G>A	ENSP00000400027.2:n.439G>A
ENST00000650516.1:c.853+593G>A	ENSP00000498052.1:n.853+593G>A
ENST00000343257.6:c.851G>A	ENSP00000339867.2:p.Gly284Glu
ENST00000432192.5:c.365G>A
ENST00000455478.5:c.443G>A
ENST00000495612.1:n.154+2642G>A
NM_000083.2:c.851G>A	NP_000074.2:p.Gly284Glu
NR_046453.1:n.941G>A
XM_011515781.1:c.853+593G>A	XP_011514083.1:n.853+593G>A
XM_017011739.1:c.403+2642G>A	XP_016867228.1:n.403+2642G>A
XM_017011740.1:c.403+2642G>A	XP_016867229.1:n.403+2642G>A
NM_000083.3:c.851G>A MANE Select	NP_000074.3:p.Gly284Glu
NR_046453.2:n.956G>A