Canonical Allele Identifier: CA369641693

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027961G>T (hg19) ; chr7:g.143330868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330868G>T , CM000669.2:g.143330868G>T	GRCh38
NC_000007.13:g.143027961G>T , CM000669.1:g.143027961G>T	GRCh37
NC_000007.12:g.142738083G>T	NCBI36
NG_009815.1:g.19743G>T
NG_009815.2:g.19743G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.950G>T	ENSP00000498052.2:p.Arg317Leu
ENST00000343257.7:c.950G>T MANE Select	ENSP00000339867.2:p.Arg317Leu
ENST00000432192.6:c.774G>T
ENST00000455478.6:c.538G>T	ENSP00000400027.2:n.538G>T
ENST00000650516.1:c.950G>T	ENSP00000498052.1:p.Arg317Leu
ENST00000343257.6:c.950G>T	ENSP00000339867.2:p.Arg317Leu
ENST00000432192.5:c.464G>T
ENST00000455478.5:c.542G>T
ENST00000495612.1:n.251G>T
NM_000083.2:c.950G>T	NP_000074.2:p.Arg317Leu
NR_046453.1:n.1040G>T
XM_011515781.1:c.950G>T	XP_011514083.1:p.Arg317Leu
XM_017011739.1:c.500G>T	XP_016867228.1:p.Arg167Leu
XM_017011740.1:c.500G>T	XP_016867229.1:p.Arg167Leu
NM_000083.3:c.950G>T MANE Select	NP_000074.3:p.Arg317Leu
NR_046453.2:n.1055G>T