Canonical Allele Identifier: CA458296344

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143021584A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324491A>T , CM000669.2:g.143324491A>T	GRCh38
NC_000007.13:g.143021584A>T , CM000669.1:g.143021584A>T	GRCh37
NC_000007.12:g.142731706A>T	NCBI36
NG_009815.1:g.13366A>T
NG_009815.2:g.13366A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+594A>T	ENSP00000498052.2:n.853+594A>T
ENST00000343257.7:c.852A>T MANE Select	ENSP00000339867.2:p.Gly284=
ENST00000432192.6:c.676A>T
ENST00000455478.6:c.440A>T	ENSP00000400027.2:n.440A>T
ENST00000650516.1:c.853+594A>T	ENSP00000498052.1:n.853+594A>T
ENST00000343257.6:c.852A>T	ENSP00000339867.2:p.Gly284=
ENST00000432192.5:c.366A>T
ENST00000455478.5:c.444A>T
ENST00000495612.1:n.154+2643A>T
NM_000083.2:c.852A>T	NP_000074.2:p.Gly284=
NR_046453.1:n.942A>T
XM_011515781.1:c.853+594A>T	XP_011514083.1:n.853+594A>T
XM_017011739.1:c.403+2643A>T	XP_016867228.1:n.403+2643A>T
XM_017011740.1:c.403+2643A>T	XP_016867229.1:n.403+2643A>T
NM_000083.3:c.852A>T MANE Select	NP_000074.3:p.Gly284=
NR_046453.2:n.957A>T