Canonical Allele Identifier: CA369687567

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143021556T>G (hg19) ; chr7:g.143324463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324463T>G , CM000669.2:g.143324463T>G	GRCh38
NC_000007.13:g.143021556T>G , CM000669.1:g.143021556T>G	GRCh37
NC_000007.12:g.142731678T>G	NCBI36
NG_009815.1:g.13338T>G
NG_009815.2:g.13338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+566T>G	ENSP00000498052.2:n.853+566T>G
ENST00000343257.7:c.824T>G MANE Select	ENSP00000339867.2:p.Val275Gly
ENST00000432192.6:c.648T>G
ENST00000455478.6:c.412T>G	ENSP00000400027.2:n.412T>G
ENST00000650516.1:c.853+566T>G	ENSP00000498052.1:n.853+566T>G
ENST00000343257.6:c.824T>G	ENSP00000339867.2:p.Val275Gly
ENST00000432192.5:c.338T>G
ENST00000455478.5:c.416T>G
ENST00000495612.1:n.154+2615T>G
NM_000083.2:c.824T>G	NP_000074.2:p.Val275Gly
NR_046453.1:n.914T>G
XM_011515781.1:c.853+566T>G	XP_011514083.1:n.853+566T>G
XM_017011739.1:c.403+2615T>G	XP_016867228.1:n.403+2615T>G
XM_017011740.1:c.403+2615T>G	XP_016867229.1:n.403+2615T>G
NM_000083.3:c.824T>G MANE Select	NP_000074.3:p.Val275Gly
NR_046453.2:n.929T>G