Canonical Allele Identifier: CA4537765

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1439449
• ClinVar RCV Id: RCV001941299 ; RCV003146391
• dbSNP Id: rs756135571
• ExAC: 7:143048760 C / T
• gnomAD v2: 7-143048760-C-T
• gnomAD v4: 7-143351667-C-T
• COSMIC: COSM3878933
• MyVariant Identifiers: chr7:g.143048760C>T (hg19) ; chr7:g.143351667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351667C>T , CM000669.2:g.143351667C>T	GRCh38
NC_000007.13:g.143048760C>T , CM000669.1:g.143048760C>T	GRCh37
NC_000007.12:g.142758882C>T	NCBI36
NG_009815.1:g.40542C>T
NG_009815.2:g.40542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2669C>T	ENSP00000498052.2:p.Thr890Met
ENST00000343257.7:c.2669C>T MANE Select	ENSP00000339867.2:p.Thr890Met
ENST00000432192.6:c.2493C>T
ENST00000343257.6:c.2669C>T	ENSP00000339867.2:p.Thr890Met
NM_000083.2:c.2669C>T	NP_000074.2:p.Thr890Met
NR_046453.1:n.2609C>T
XM_011515781.1:c.2693C>T	XP_011514083.1:p.Thr898Met
XM_011515782.1:c.1415C>T	XP_011514084.1:p.Thr472Met
XM_011515782.2:c.1415C>T	XP_011514084.1:p.Thr472Met
XM_017011739.1:c.2243C>T	XP_016867228.1:p.Thr748Met
XM_017011740.1:c.2219C>T	XP_016867229.1:p.Thr740Met
NM_000083.3:c.2669C>T MANE Select	NP_000074.3:p.Thr890Met
NR_046453.2:n.2624C>T