Canonical Allele Identifier: CA1748892796
Gene: CLCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143339337G= , CM000669.2:g.143339337G= GRCh38
NC_000007.13:g.143036430G= , CM000669.1:g.143036430G= GRCh37
NC_000007.12:g.142746552G= NCBI36
NG_009815.1:g.28212G=
NG_009815.2:g.28212G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1471+15G= ENSP00000498052.2:n.1471+15G=
ENST00000343257.7:c.1471+15G= MANE Select ENSP00000339867.2:n.1471+15G=
ENST00000432192.6:c.1295+15G=
ENST00000343257.6:c.1471+15G= ENSP00000339867.2:n.1471+15G=
NM_000083.2:c.1471+15G= NP_000074.2:n.1471+15G=
NR_046453.1:n.1411+15G=
XM_011515781.1:c.1495+15G= XP_011514083.1:n.1495+15G=
XM_011515782.1:c.217+15G= XP_011514084.1:n.217+15G=
XM_011515782.2:c.217+15G= XP_011514084.1:n.217+15G=
XM_017011739.1:c.1045+15G= XP_016867228.1:n.1045+15G=
XM_017011740.1:c.1021+15G= XP_016867229.1:n.1021+15G=
NM_000083.3:c.1471+15G= MANE Select NP_000074.3:n.1471+15G=
NR_046453.2:n.1426+15G=