Canonical Allele Identifier: CA1748892700
Gene: CLCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143339119A= , CM000669.2:g.143339119A= GRCh38
NC_000007.13:g.143036212A= , CM000669.1:g.143036212A= GRCh37
NC_000007.12:g.142746334A= NCBI36
NG_009815.1:g.27994A=
NG_009815.2:g.27994A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1402-134A= ENSP00000498052.2:n.1402-134A=
ENST00000343257.7:c.1402-134A= MANE Select ENSP00000339867.2:n.1402-134A=
ENST00000432192.6:c.1226-134A=
ENST00000343257.6:c.1402-134A= ENSP00000339867.2:n.1402-134A=
NM_000083.2:c.1402-134A= NP_000074.2:n.1402-134A=
NR_046453.1:n.1342-134A=
XM_011515781.1:c.1426-134A= XP_011514083.1:n.1426-134A=
XM_011515782.1:c.148-134A= XP_011514084.1:n.148-134A=
XM_011515782.2:c.148-134A= XP_011514084.1:n.148-134A=
XM_017011739.1:c.976-134A= XP_016867228.1:n.976-134A=
XM_017011740.1:c.952-134A= XP_016867229.1:n.952-134A=
NM_000083.3:c.1402-134A= MANE Select NP_000074.3:n.1402-134A=
NR_046453.2:n.1357-134A=