Canonical Allele Identifier: CA4537793

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 910142
• ClinVar RCV Id: RCV001161761
• dbSNP Id: rs769053787
• ExAC: 7:143048913 C / T
• gnomAD v2: 7-143048913-C-T
• gnomAD v3: 7-143351820-C-T
• gnomAD v4: 7-143351820-C-T
• COSMIC: COSM3635212
• MyVariant Identifiers: chr7:g.143048913C>T (hg19) ; chr7:g.143351820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351820C>T , CM000669.2:g.143351820C>T	GRCh38
NC_000007.13:g.143048913C>T , CM000669.1:g.143048913C>T	GRCh37
NC_000007.12:g.142759035C>T	NCBI36
NG_009815.1:g.40695C>T
NG_009815.2:g.40695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2822C>T	ENSP00000498052.2:p.Ser941Phe
ENST00000343257.7:c.2822C>T MANE Select	ENSP00000339867.2:p.Ser941Phe
ENST00000343257.6:c.2822C>T	ENSP00000339867.2:p.Ser941Phe
NM_000083.2:c.2822C>T	NP_000074.2:p.Ser941Phe
NR_046453.1:n.2762C>T
XM_011515781.1:c.2846C>T	XP_011514083.1:p.Ser949Phe
XM_011515782.1:c.1568C>T	XP_011514084.1:p.Ser523Phe
XM_011515782.2:c.1568C>T	XP_011514084.1:p.Ser523Phe
XM_017011739.1:c.2396C>T	XP_016867228.1:p.Ser799Phe
XM_017011740.1:c.2372C>T	XP_016867229.1:p.Ser791Phe
NM_000083.3:c.2822C>T MANE Select	NP_000074.3:p.Ser941Phe
NR_046453.2:n.2777C>T