Canonical Allele Identifier: CA369684995

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018924A>T (hg19) ; chr7:g.143321831A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321831A>T , CM000669.2:g.143321831A>T	GRCh38
NC_000007.13:g.143018924A>T , CM000669.1:g.143018924A>T	GRCh37
NC_000007.12:g.142729046A>T	NCBI36
NG_009815.1:g.10706A>T
NG_009815.2:g.10706A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.679A>T	ENSP00000498052.2:p.Ile227Phe
ENST00000343257.7:c.679A>T MANE Select	ENSP00000339867.2:p.Ile227Phe
ENST00000432192.6:c.447A>T
ENST00000455478.6:c.133A>T	ENSP00000400027.2:p.Ile45Phe
ENST00000650516.1:c.679A>T	ENSP00000498052.1:p.Ile227Phe
ENST00000343257.6:c.679A>T	ENSP00000339867.2:p.Ile227Phe
ENST00000432192.5:c.137A>T
ENST00000455478.5:c.137A>T
ENST00000495612.1:n.137A>T
NM_000083.2:c.679A>T	NP_000074.2:p.Ile227Phe
NR_046453.1:n.766A>T
XM_011515781.1:c.679A>T	XP_011514083.1:p.Ile227Phe
XM_017011739.1:c.386A>T	XP_016867228.1:p.His129Leu
XM_017011740.1:c.386A>T	XP_016867229.1:p.His129Leu
NM_000083.3:c.679A>T MANE Select	NP_000074.3:p.Ile227Phe
NR_046453.2:n.781A>T