Canonical Allele Identifier: CA369684362

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 995345
• ClinVar RCV Id: RCV001289385
• dbSNP Id: rs1802442547
• MyVariant Identifiers: chr7:g.143018831A>T (hg19) ; chr7:g.143321738A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321738A>T , CM000669.2:g.143321738A>T	GRCh38
NC_000007.13:g.143018831A>T , CM000669.1:g.143018831A>T	GRCh37
NC_000007.12:g.142728953A>T	NCBI36
NG_009815.1:g.10613A>T
NG_009815.2:g.10613A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.586A>T	ENSP00000498052.2:p.Thr196Ser
ENST00000343257.7:c.586A>T MANE Select	ENSP00000339867.2:p.Thr196Ser
ENST00000432192.6:c.354A>T
ENST00000455478.6:c.40A>T	ENSP00000400027.2:p.Thr14Ser
ENST00000650516.1:c.586A>T	ENSP00000498052.1:p.Thr196Ser
ENST00000343257.6:c.586A>T	ENSP00000339867.2:p.Thr196Ser
ENST00000432192.5:c.44A>T
ENST00000455478.5:c.44A>T
ENST00000495612.1:n.44A>T
NM_000083.2:c.586A>T	NP_000074.2:p.Thr196Ser
NR_046453.1:n.673A>T
XM_011515781.1:c.586A>T	XP_011514083.1:p.Thr196Ser
XM_017011739.1:c.293A>T	XP_016867228.1:p.Asp98Val
XM_017011740.1:c.293A>T	XP_016867229.1:p.Asp98Val
NM_000083.3:c.586A>T MANE Select	NP_000074.3:p.Thr196Ser
NR_046453.2:n.688A>T