Canonical Allele Identifier: CA4537314
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1038555
ClinVar RCV Id: RCV001341884 RCV003145587
dbSNP Id: rs375292685
ExAC: 7:143029845 T / C
gnomAD v2: 7-143029845-T-C
gnomAD v3: 7-143332752-T-C
gnomAD v4: 7-143332752-T-C
MyVariant Identifiers: chr7:g.143029845T>C (hg19) chr7:g.143332752T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332752T>C , CM000669.2:g.143332752T>C GRCh38
NC_000007.13:g.143029845T>C , CM000669.1:g.143029845T>C GRCh37
NC_000007.12:g.142739967T>C NCBI36
NG_009815.1:g.21627T>C
NG_009815.2:g.21627T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1280T>C ENSP00000498052.2:p.Leu427Ser
ENST00000343257.7:c.1280T>C MANE Select ENSP00000339867.2:p.Leu427Ser
ENST00000432192.6:c.1104T>C
ENST00000343257.6:c.1280T>C ENSP00000339867.2:p.Leu427Ser
NM_000083.2:c.1280T>C NP_000074.2:p.Leu427Ser
NR_046453.1:n.1341+249T>C
XM_011515781.1:c.1304T>C XP_011514083.1:p.Leu435Ser
XM_011515782.1:c.26T>C XP_011514084.1:p.Leu9Ser
XM_011515782.2:c.26T>C XP_011514084.1:p.Leu9Ser
XM_017011739.1:c.854T>C XP_016867228.1:p.Leu285Ser
XM_017011740.1:c.830T>C XP_016867229.1:p.Leu277Ser
NM_000083.3:c.1280T>C MANE Select NP_000074.3:p.Leu427Ser
NR_046453.2:n.1356+249T>C
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