Canonical Allele Identifier: CA2573141805

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1407714
• ClinVar RCV Id: RCV001909331 ; RCV003319490
• dbSNP Id: rs2116372748

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341973_143341974delinsAT , CM000669.2:g.143341973_143341974delinsAT	GRCh38
NC_000007.13:g.143039066_143039067delinsAT , CM000669.1:g.143039066_143039067delinsAT	GRCh37
NC_000007.12:g.142749188_142749189delinsAT	NCBI36
NG_009815.1:g.30848_30849delinsAT
NG_009815.2:g.30848_30849delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1627_1628delinsAT	ENSP00000498052.2:p.Ala543Ile
ENST00000343257.7:c.1627_1628delinsAT MANE Select	ENSP00000339867.2:p.Ala543Ile
ENST00000432192.6:c.1451_1452delinsAT
ENST00000343257.6:c.1627_1628delinsAT	ENSP00000339867.2:p.Ala543Ile
NM_000083.2:c.1627_1628delinsAT	NP_000074.2:p.Ala543Ile
NR_046453.1:n.1567_1568delinsAT
XM_011515781.1:c.1651_1652delinsAT	XP_011514083.1:p.Ala551Ile
XM_011515782.1:c.373_374delinsAT	XP_011514084.1:p.Ala125Ile
XM_011515782.2:c.373_374delinsAT	XP_011514084.1:p.Ala125Ile
XM_017011739.1:c.1201_1202delinsAT	XP_016867228.1:p.Ala401Ile
XM_017011740.1:c.1177_1178delinsAT	XP_016867229.1:p.Ala393Ile
NM_000083.3:c.1627_1628delinsAT MANE Select	NP_000074.3:p.Ala543Ile
NR_046453.2:n.1582_1583delinsAT