Canonical Allele Identifier: CA1748889744
Gene: CLCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332708C= , CM000669.2:g.143332708C= GRCh38
NC_000007.13:g.143029801C= , CM000669.1:g.143029801C= GRCh37
NC_000007.12:g.142739923C= NCBI36
NG_009815.1:g.21583C=
NG_009815.2:g.21583C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1252-16C= ENSP00000498052.2:n.1252-16C=
ENST00000343257.7:c.1252-16C= MANE Select ENSP00000339867.2:n.1252-16C=
ENST00000432192.6:c.1076-16C=
ENST00000343257.6:c.1252-16C= ENSP00000339867.2:n.1252-16C=
NM_000083.2:c.1252-16C= NP_000074.2:n.1252-16C=
NR_046453.1:n.1341+205C=
XM_011515781.1:c.1276-16C= XP_011514083.1:n.1276-16C=
XM_011515782.1:c.-3-16C= XP_011514084.1:n.-3-16C=
XM_011515782.2:c.-3-16C= XP_011514084.1:n.-3-16C=
XM_017011739.1:c.826-16C= XP_016867228.1:n.826-16C=
XM_017011740.1:c.802-16C= XP_016867229.1:n.802-16C=
NM_000083.3:c.1252-16C= MANE Select NP_000074.3:n.1252-16C=
NR_046453.2:n.1356+205C=