Canonical Allele Identifier: CA4537450

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2930661
• ClinVar RCV Id: RCV003789971
• dbSNP Id: rs759917633
• ExAC: 7:143039137 C / T
• gnomAD v2: 7-143039137-C-T
• gnomAD v3: 7-143342044-C-T
• gnomAD v4: 7-143342044-C-T
• MyVariant Identifiers: chr7:g.143039137C>T (hg19) ; chr7:g.143342044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342044C>T , CM000669.2:g.143342044C>T	GRCh38
NC_000007.13:g.143039137C>T , CM000669.1:g.143039137C>T	GRCh37
NC_000007.12:g.142749259C>T	NCBI36
NG_009815.1:g.30919C>T
NG_009815.2:g.30919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1698C>T	ENSP00000498052.2:p.Ala566=
ENST00000343257.7:c.1698C>T MANE Select	ENSP00000339867.2:p.Ala566=
ENST00000432192.6:c.1522C>T
ENST00000343257.6:c.1698C>T	ENSP00000339867.2:p.Ala566=
NM_000083.2:c.1698C>T	NP_000074.2:p.Ala566=
NR_046453.1:n.1638C>T
XM_011515781.1:c.1722C>T	XP_011514083.1:p.Ala574=
XM_011515782.1:c.444C>T	XP_011514084.1:p.Ala148=
XM_011515782.2:c.444C>T	XP_011514084.1:p.Ala148=
XM_017011739.1:c.1272C>T	XP_016867228.1:p.Ala424=
XM_017011740.1:c.1248C>T	XP_016867229.1:p.Ala416=
NM_000083.3:c.1698C>T MANE Select	NP_000074.3:p.Ala566=
NR_046453.2:n.1653C>T