Canonical Allele Identifier: CA4537441

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2923979
• ClinVar RCV Id: RCV003783537
• dbSNP Id: rs756105523
• ExAC: 7:143039080 C / T
• gnomAD v2: 7-143039080-C-T
• gnomAD v3: 7-143341987-C-T
• gnomAD v4: 7-143341987-C-T
• COSMIC: COSM4672617
• MyVariant Identifiers: chr7:g.143039080C>T (hg19) ; chr7:g.143341987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341987C>T , CM000669.2:g.143341987C>T	GRCh38
NC_000007.13:g.143039080C>T , CM000669.1:g.143039080C>T	GRCh37
NC_000007.12:g.142749202C>T	NCBI36
NG_009815.1:g.30862C>T
NG_009815.2:g.30862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1641C>T	ENSP00000498052.2:p.Phe547=
ENST00000343257.7:c.1641C>T MANE Select	ENSP00000339867.2:p.Phe547=
ENST00000432192.6:c.1465C>T
ENST00000343257.6:c.1641C>T	ENSP00000339867.2:p.Phe547=
NM_000083.2:c.1641C>T	NP_000074.2:p.Phe547=
NR_046453.1:n.1581C>T
XM_011515781.1:c.1665C>T	XP_011514083.1:p.Phe555=
XM_011515782.1:c.387C>T	XP_011514084.1:p.Phe129=
XM_011515782.2:c.387C>T	XP_011514084.1:p.Phe129=
XM_017011739.1:c.1215C>T	XP_016867228.1:p.Phe405=
XM_017011740.1:c.1191C>T	XP_016867229.1:p.Phe397=
NM_000083.3:c.1641C>T MANE Select	NP_000074.3:p.Phe547=
NR_046453.2:n.1596C>T