Canonical Allele Identifier: CA369684661

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018872G>A (hg19) ; chr7:g.143321779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321779G>A , CM000669.2:g.143321779G>A	GRCh38
NC_000007.13:g.143018872G>A , CM000669.1:g.143018872G>A	GRCh37
NC_000007.12:g.142728994G>A	NCBI36
NG_009815.1:g.10654G>A
NG_009815.2:g.10654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.627G>A	ENSP00000498052.2:p.Met209Ile
ENST00000343257.7:c.627G>A MANE Select	ENSP00000339867.2:p.Met209Ile
ENST00000432192.6:c.395G>A
ENST00000455478.6:c.81G>A	ENSP00000400027.2:p.Met27Ile
ENST00000650516.1:c.627G>A	ENSP00000498052.1:p.Met209Ile
ENST00000343257.6:c.627G>A	ENSP00000339867.2:p.Met209Ile
ENST00000432192.5:c.85G>A
ENST00000455478.5:c.85G>A
ENST00000495612.1:n.85G>A
NM_000083.2:c.627G>A	NP_000074.2:p.Met209Ile
NR_046453.1:n.714G>A
XM_011515781.1:c.627G>A	XP_011514083.1:p.Met209Ile
XM_017011739.1:c.334G>A	XP_016867228.1:p.Glu112Lys
XM_017011740.1:c.334G>A	XP_016867229.1:p.Glu112Lys
NM_000083.3:c.627G>A MANE Select	NP_000074.3:p.Met209Ile
NR_046453.2:n.729G>A