Canonical Allele Identifier: CA369684421

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 585692
• ClinVar RCV Id: RCV001861960
• dbSNP Id: rs1347382107
• MyVariant Identifiers: chr7:g.143018838T>C (hg19) ; chr7:g.143321745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321745T>C , CM000669.2:g.143321745T>C	GRCh38
NC_000007.13:g.143018838T>C , CM000669.1:g.143018838T>C	GRCh37
NC_000007.12:g.142728960T>C	NCBI36
NG_009815.1:g.10620T>C
NG_009815.2:g.10620T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.593T>C	ENSP00000498052.2:p.Leu198Pro
ENST00000343257.7:c.593T>C MANE Select	ENSP00000339867.2:p.Leu198Pro
ENST00000432192.6:c.361T>C
ENST00000455478.6:c.47T>C	ENSP00000400027.2:p.Leu16Pro
ENST00000650516.1:c.593T>C	ENSP00000498052.1:p.Leu198Pro
ENST00000343257.6:c.593T>C	ENSP00000339867.2:p.Leu198Pro
ENST00000432192.5:c.51T>C
ENST00000455478.5:c.51T>C
ENST00000495612.1:n.51T>C
NM_000083.2:c.593T>C	NP_000074.2:p.Leu198Pro
NR_046453.1:n.680T>C
XM_011515781.1:c.593T>C	XP_011514083.1:p.Leu198Pro
XM_017011739.1:c.300T>C	XP_016867228.1:p.Thr100=
XM_017011740.1:c.300T>C	XP_016867229.1:p.Thr100=
NM_000083.3:c.593T>C MANE Select	NP_000074.3:p.Leu198Pro
NR_046453.2:n.695T>C