Canonical Allele Identifier: CA4537457

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 858667
• ClinVar RCV Id: RCV001064590 ; RCV001593243
• dbSNP Id: rs766432255
• ExAC: 7:143039162 C / T
• gnomAD v2: 7-143039162-C-T
• gnomAD v3: 7-143342069-C-T
• gnomAD v4: 7-143342069-C-T
• MyVariant Identifiers: chr7:g.143039162C>T (hg19) ; chr7:g.143342069C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1723C>T	ENSP00000498052.2:p.Pro575Ser
ENST00000343257.7:c.1723C>T MANE Select	ENSP00000339867.2:p.Pro575Ser
ENST00000432192.6:c.1547C>T
ENST00000343257.6:c.1723C>T	ENSP00000339867.2:p.Pro575Ser
NM_000083.2:c.1723C>T	NP_000074.2:p.Pro575Ser
NR_046453.1:n.1663C>T
XM_011515781.1:c.1747C>T	XP_011514083.1:p.Pro583Ser
XM_011515782.1:c.469C>T	XP_011514084.1:p.Pro157Ser
XM_011515782.2:c.469C>T	XP_011514084.1:p.Pro157Ser
XM_017011739.1:c.1297C>T	XP_016867228.1:p.Pro433Ser
XM_017011740.1:c.1273C>T	XP_016867229.1:p.Pro425Ser
NM_000083.3:c.1723C>T MANE Select	NP_000074.3:p.Pro575Ser
NR_046453.2:n.1678C>T