Canonical Allele Identifier: CA168214308
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1491598
ClinVar RCV Id: RCV003146459 RCV002010109
dbSNP Id: rs889073641
gnomAD v2: 7-143029829-G-A
gnomAD v3: 7-143332736-G-A
gnomAD v4: 7-143332736-G-A
COSMIC: COSM274560
MyVariant Identifiers: chr7:g.143029829G>A (hg19) chr7:g.143332736G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332736G>A , CM000669.2:g.143332736G>A GRCh38
NC_000007.13:g.143029829G>A , CM000669.1:g.143029829G>A GRCh37
NC_000007.12:g.142739951G>A NCBI36
NG_009815.1:g.21611G>A
NG_009815.2:g.21611G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1264G>A ENSP00000498052.2:p.Glu422Lys
ENST00000343257.7:c.1264G>A MANE Select ENSP00000339867.2:p.Glu422Lys
ENST00000432192.6:c.1088G>A
ENST00000343257.6:c.1264G>A ENSP00000339867.2:p.Glu422Lys
NM_000083.2:c.1264G>A NP_000074.2:p.Glu422Lys
NR_046453.1:n.1341+233G>A
XM_011515781.1:c.1288G>A XP_011514083.1:p.Glu430Lys
XM_011515782.1:c.10G>A XP_011514084.1:p.Glu4Lys
XM_011515782.2:c.10G>A XP_011514084.1:p.Glu4Lys
XM_017011739.1:c.838G>A XP_016867228.1:p.Glu280Lys
XM_017011740.1:c.814G>A XP_016867229.1:p.Glu272Lys
NM_000083.3:c.1264G>A MANE Select NP_000074.3:p.Glu422Lys
NR_046453.2:n.1356+233G>A
Search 100 bp 5'
Search 100 bp 3'