Canonical Allele Identifier: CA369643720
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1425685904

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332730C>T , CM000669.2:g.143332730C>T GRCh38
NC_000007.13:g.143029823C>T , CM000669.1:g.143029823C>T GRCh37
NC_000007.12:g.142739945C>T NCBI36
NG_009815.1:g.21605C>T
NG_009815.2:g.21605C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1258C>T ENSP00000498052.2:p.Pro420Ser
ENST00000343257.7:c.1258C>T MANE Select ENSP00000339867.2:p.Pro420Ser
ENST00000432192.6:c.1082C>T
ENST00000343257.6:c.1258C>T ENSP00000339867.2:p.Pro420Ser
NM_000083.2:c.1258C>T NP_000074.2:p.Pro420Ser
NR_046453.1:n.1341+227C>T
XM_011515781.1:c.1282C>T XP_011514083.1:p.Pro428Ser
XM_011515782.1:c.4C>T XP_011514084.1:p.Pro2Ser
XM_011515782.2:c.4C>T XP_011514084.1:p.Pro2Ser
XM_017011739.1:c.832C>T XP_016867228.1:p.Pro278Ser
XM_017011740.1:c.808C>T XP_016867229.1:p.Pro270Ser
NM_000083.3:c.1258C>T MANE Select NP_000074.3:p.Pro420Ser
NR_046453.2:n.1356+227C>T