Canonical Allele Identifier: CA369644393

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1202581
• ClinVar RCV Id: RCV001837017
• dbSNP Id: rs139158852
• MyVariant Identifiers: chr7:g.143029958G>T (hg19) ; chr7:g.143332865G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332865G>T , CM000669.2:g.143332865G>T	GRCh38
NC_000007.13:g.143029958G>T , CM000669.1:g.143029958G>T	GRCh37
NC_000007.12:g.142740080G>T	NCBI36
NG_009815.1:g.21740G>T
NG_009815.2:g.21740G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1393G>T	ENSP00000498052.2:p.Val465Phe
ENST00000343257.7:c.1393G>T MANE Select	ENSP00000339867.2:p.Val465Phe
ENST00000432192.6:c.1217G>T
ENST00000343257.6:c.1393G>T	ENSP00000339867.2:p.Val465Phe
NM_000083.2:c.1393G>T	NP_000074.2:p.Val465Phe
NR_046453.1:n.1341+362G>T
XM_011515781.1:c.1417G>T	XP_011514083.1:p.Val473Phe
XM_011515782.1:c.139G>T	XP_011514084.1:p.Val47Phe
XM_011515782.2:c.139G>T	XP_011514084.1:p.Val47Phe
XM_017011739.1:c.967G>T	XP_016867228.1:p.Val323Phe
XM_017011740.1:c.943G>T	XP_016867229.1:p.Val315Phe
NM_000083.3:c.1393G>T MANE Select	NP_000074.3:p.Val465Phe
NR_046453.2:n.1356+362G>T