Canonical Allele Identifier: CA4537608

Gene: CLCN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143346256C>T , CM000669.2:g.143346256C>T	GRCh38
NC_000007.13:g.143043349C>T , CM000669.1:g.143043349C>T	GRCh37
NC_000007.12:g.142753471C>T	NCBI36
NG_009815.1:g.35131C>T
NG_009815.2:g.35131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2284+5C>T	ENSP00000498052.2:n.2284+5C>T
ENST00000343257.7:c.2284+5C>T MANE Select	ENSP00000339867.2:n.2284+5C>T
ENST00000432192.6:c.2108+5C>T
ENST00000343257.6:c.2284+5C>T	ENSP00000339867.2:n.2284+5C>T
NM_000083.2:c.2284+5C>T	NP_000074.2:n.2284+5C>T
NR_046453.1:n.2224+5C>T
XM_011515781.1:c.2308+5C>T	XP_011514083.1:n.2308+5C>T
XM_011515782.1:c.1030+5C>T	XP_011514084.1:n.1030+5C>T
XM_011515782.2:c.1030+5C>T	XP_011514084.1:n.1030+5C>T
XM_017011739.1:c.1858+5C>T	XP_016867228.1:n.1858+5C>T
XM_017011740.1:c.1834+5C>T	XP_016867229.1:n.1834+5C>T
NM_000083.3:c.2284+5C>T MANE Select	NP_000074.3:n.2284+5C>T
NR_046453.2:n.2239+5C>T