Canonical Allele Identifier: CA369645472

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2016527
• ClinVar RCV Id: RCV002851617
• MyVariant Identifiers: chr7:g.143036416G>T (hg19) ; chr7:g.143339323G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339323G>T , CM000669.2:g.143339323G>T	GRCh38
NC_000007.13:g.143036416G>T , CM000669.1:g.143036416G>T	GRCh37
NC_000007.12:g.142746538G>T	NCBI36
NG_009815.1:g.28198G>T
NG_009815.2:g.28198G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1471+1G>T	ENSP00000498052.2:n.1471+1G>T
ENST00000343257.7:c.1471+1G>T MANE Select	ENSP00000339867.2:n.1471+1G>T
ENST00000432192.6:c.1295+1G>T
ENST00000343257.6:c.1471+1G>T	ENSP00000339867.2:n.1471+1G>T
NM_000083.2:c.1471+1G>T	NP_000074.2:n.1471+1G>T
NR_046453.1:n.1411+1G>T
XM_011515781.1:c.1495+1G>T	XP_011514083.1:n.1495+1G>T
XM_011515782.1:c.217+1G>T	XP_011514084.1:n.217+1G>T
XM_011515782.2:c.217+1G>T	XP_011514084.1:n.217+1G>T
XM_017011739.1:c.1045+1G>T	XP_016867228.1:n.1045+1G>T
XM_017011740.1:c.1021+1G>T	XP_016867229.1:n.1021+1G>T
NM_000083.3:c.1471+1G>T MANE Select	NP_000074.3:n.1471+1G>T
NR_046453.2:n.1426+1G>T