Canonical Allele Identifier: CA369641518

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027879A>C (hg19) ; chr7:g.143330786A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330786A>C , CM000669.2:g.143330786A>C	GRCh38
NC_000007.13:g.143027879A>C , CM000669.1:g.143027879A>C	GRCh37
NC_000007.12:g.142738001A>C	NCBI36
NG_009815.1:g.19661A>C
NG_009815.2:g.19661A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.868A>C	ENSP00000498052.2:p.Ile290Leu
ENST00000343257.7:c.868A>C MANE Select	ENSP00000339867.2:p.Ile290Leu
ENST00000432192.6:c.692A>C
ENST00000455478.6:c.456A>C	ENSP00000400027.2:n.456A>C
ENST00000650516.1:c.868A>C	ENSP00000498052.1:p.Ile290Leu
ENST00000343257.6:c.868A>C	ENSP00000339867.2:p.Ile290Leu
ENST00000432192.5:c.382A>C
ENST00000455478.5:c.460A>C
ENST00000495612.1:n.169A>C
NM_000083.2:c.868A>C	NP_000074.2:p.Ile290Leu
NR_046453.1:n.958A>C
XM_011515781.1:c.868A>C	XP_011514083.1:p.Ile290Leu
XM_017011739.1:c.418A>C	XP_016867228.1:p.Ile140Leu
XM_017011740.1:c.418A>C	XP_016867229.1:p.Ile140Leu
NM_000083.3:c.868A>C MANE Select	NP_000074.3:p.Ile290Leu
NR_046453.2:n.973A>C