Canonical Allele Identifier: CA369646636

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342069-C-A
• MyVariant Identifiers: chr7:g.143039162C>A (hg19) ; chr7:g.143342069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342069C>A , CM000669.2:g.143342069C>A	GRCh38
NC_000007.13:g.143039162C>A , CM000669.1:g.143039162C>A	GRCh37
NC_000007.12:g.142749284C>A	NCBI36
NG_009815.1:g.30944C>A
NG_009815.2:g.30944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1723C>A	ENSP00000498052.2:p.Pro575Thr
ENST00000343257.7:c.1723C>A MANE Select	ENSP00000339867.2:p.Pro575Thr
ENST00000432192.6:c.1547C>A
ENST00000343257.6:c.1723C>A	ENSP00000339867.2:p.Pro575Thr
NM_000083.2:c.1723C>A	NP_000074.2:p.Pro575Thr
NR_046453.1:n.1663C>A
XM_011515781.1:c.1747C>A	XP_011514083.1:p.Pro583Thr
XM_011515782.1:c.469C>A	XP_011514084.1:p.Pro157Thr
XM_011515782.2:c.469C>A	XP_011514084.1:p.Pro157Thr
XM_017011739.1:c.1297C>A	XP_016867228.1:p.Pro433Thr
XM_017011740.1:c.1273C>A	XP_016867229.1:p.Pro425Thr
NM_000083.3:c.1723C>A MANE Select	NP_000074.3:p.Pro575Thr
NR_046453.2:n.1678C>A