Canonical Allele Identifier: CA1748898219
Gene: CLCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351547T= , CM000669.2:g.143351547T= GRCh38
NC_000007.13:g.143048640T= , CM000669.1:g.143048640T= GRCh37
NC_000007.12:g.142758762T= NCBI36
NG_009815.1:g.40422T=
NG_009815.2:g.40422T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2596-47T= ENSP00000498052.2:n.2596-47T=
ENST00000343257.7:c.2596-47T= MANE Select ENSP00000339867.2:n.2596-47T=
ENST00000432192.6:c.2420-47T=
ENST00000343257.6:c.2596-47T= ENSP00000339867.2:n.2596-47T=
NM_000083.2:c.2596-47T= NP_000074.2:n.2596-47T=
NR_046453.1:n.2536-47T=
XM_011515781.1:c.2620-47T= XP_011514083.1:n.2620-47T=
XM_011515782.1:c.1342-47T= XP_011514084.1:n.1342-47T=
XM_011515782.2:c.1342-47T= XP_011514084.1:n.1342-47T=
XM_017011739.1:c.2170-47T= XP_016867228.1:n.2170-47T=
XM_017011740.1:c.2146-47T= XP_016867229.1:n.2146-47T=
NM_000083.3:c.2596-47T= MANE Select NP_000074.3:n.2596-47T=
NR_046453.2:n.2551-47T=