Canonical Allele Identifier: CA369687566

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1807040
• ClinVar RCV Id: RCV002474469
• MyVariant Identifiers: chr7:g.143021556T>C (hg19) ; chr7:g.143324463T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+566T>C	ENSP00000498052.2:n.853+566T>C
ENST00000343257.7:c.824T>C MANE Select	ENSP00000339867.2:p.Val275Ala
ENST00000432192.6:c.648T>C
ENST00000455478.6:c.412T>C	ENSP00000400027.2:n.412T>C
ENST00000650516.1:c.853+566T>C	ENSP00000498052.1:n.853+566T>C
ENST00000343257.6:c.824T>C	ENSP00000339867.2:p.Val275Ala
ENST00000432192.5:c.338T>C
ENST00000455478.5:c.416T>C
ENST00000495612.1:n.154+2615T>C
NM_000083.2:c.824T>C	NP_000074.2:p.Val275Ala
NR_046453.1:n.914T>C
XM_011515781.1:c.853+566T>C	XP_011514083.1:n.853+566T>C
XM_017011739.1:c.403+2615T>C	XP_016867228.1:n.403+2615T>C
XM_017011740.1:c.403+2615T>C	XP_016867229.1:n.403+2615T>C
NM_000083.3:c.824T>C MANE Select	NP_000074.3:p.Val275Ala
NR_046453.2:n.929T>C