Canonical Allele Identifier: CA341544
Gene: CLCN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21043
ClinVar RCV Id: RCV000020106
dbSNP Id: rs80356698

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143350571_143350572insCTCA , CM000669.2:g.143350571_143350572insCTCA GRCh38
NC_000007.13:g.143047664_143047665insCTCA , CM000669.1:g.143047664_143047665insCTCA GRCh37
NC_000007.12:g.142757786_142757787insCTCA NCBI36
NG_009815.1:g.39446_39447insCTCA

Transcript Alleles

HGVS Amino-acid change
NM_000083.2:c.2512_2513insCTCA VV NP_000074.2:p.His838ProfsTer?
NR_046453.1:n.2452_2453insCTCA
XM_011515781.1:c.2536_2537insCTCA XP_011514083.1:p.His846ProfsTer?
XM_011515782.1:c.1258_1259insCTCA XP_011514084.1:p.His420ProfsTer?
XM_011515782.2:c.1258_1259insCTCA XP_011514084.1:p.His420ProfsTer?
XM_017011739.1:c.2086_2087insCTCA XP_016867228.1:p.His696ProfsTer?
XM_017011740.1:c.2062_2063insCTCA XP_016867229.1:p.His688ProfsTer?
ENST00000343257.6:c.2512_2513insCTCA ENSP00000339867.2:p.His838ProfsTer?