Canonical Allele Identifier: CA369680508

Gene: CLCN1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143319794C>T , CM000669.2:g.143319794C>T	GRCh38
NC_000007.13:g.143016887C>T , CM000669.1:g.143016887C>T	GRCh37
NC_000007.12:g.142727009C>T	NCBI36
NG_009815.1:g.8669C>T
NG_009815.2:g.8669C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.220C>T	ENSP00000498052.2:p.Gln74Ter
ENST00000343257.7:c.220C>T MANE Select	ENSP00000339867.2:p.Gln74Ter
ENST00000650516.1:c.220C>T	ENSP00000498052.1:p.Gln74Ter
ENST00000343257.6:c.220C>T	ENSP00000339867.2:p.Gln74Ter
NM_000083.2:c.220C>T	NP_000074.2:p.Gln74Ter
NR_046453.1:n.307C>T
XM_011515781.1:c.220C>T	XP_011514083.1:p.Gln74Ter
XM_017011739.1:c.-74C>T	XP_016867228.1:n.-74C>T
XM_017011740.1:c.-74C>T	XP_016867229.1:n.-74C>T
NM_000083.3:c.220C>T MANE Select	NP_000074.3:p.Gln74Ter
NR_046453.2:n.322C>T