Canonical Allele Identifier: CA4537684

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 531741
• ClinVar RCV Id: RCV000638234
• dbSNP Id: rs146453561
• ExAC: 7:143047472 C / T
• gnomAD v2: 7-143047472-C-T
• gnomAD v3: 7-143350379-C-T
• gnomAD v4: 7-143350379-C-T
• MyVariant Identifiers: chr7:g.143047472C>T (hg19) ; chr7:g.143350379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350379C>T , CM000669.2:g.143350379C>T	GRCh38
NC_000007.13:g.143047472C>T , CM000669.1:g.143047472C>T	GRCh37
NC_000007.12:g.142757594C>T	NCBI36
NG_009815.1:g.39254C>T
NG_009815.2:g.39254C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2411C>T	ENSP00000498052.2:p.Ala804Val
ENST00000343257.7:c.2411C>T MANE Select	ENSP00000339867.2:p.Ala804Val
ENST00000432192.6:c.2235C>T
ENST00000343257.6:c.2411C>T	ENSP00000339867.2:p.Ala804Val
NM_000083.2:c.2411C>T	NP_000074.2:p.Ala804Val
NR_046453.1:n.2351C>T
XM_011515781.1:c.2435C>T	XP_011514083.1:p.Ala812Val
XM_011515782.1:c.1157C>T	XP_011514084.1:p.Ala386Val
XM_011515782.2:c.1157C>T	XP_011514084.1:p.Ala386Val
XM_017011739.1:c.1985C>T	XP_016867228.1:p.Ala662Val
XM_017011740.1:c.1961C>T	XP_016867229.1:p.Ala654Val
NM_000083.3:c.2411C>T MANE Select	NP_000074.3:p.Ala804Val
NR_046453.2:n.2366C>T