Canonical Allele Identifier: CA369687531

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143021538T>C (hg19) ; chr7:g.143324445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324445T>C , CM000669.2:g.143324445T>C	GRCh38
NC_000007.13:g.143021538T>C , CM000669.1:g.143021538T>C	GRCh37
NC_000007.12:g.142731660T>C	NCBI36
NG_009815.1:g.13320T>C
NG_009815.2:g.13320T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+548T>C	ENSP00000498052.2:n.853+548T>C
ENST00000343257.7:c.806T>C MANE Select	ENSP00000339867.2:p.Val269Ala
ENST00000432192.6:c.630T>C
ENST00000455478.6:c.394T>C	ENSP00000400027.2:n.394T>C
ENST00000650516.1:c.853+548T>C	ENSP00000498052.1:n.853+548T>C
ENST00000343257.6:c.806T>C	ENSP00000339867.2:p.Val269Ala
ENST00000432192.5:c.320T>C
ENST00000455478.5:c.398T>C
ENST00000495612.1:n.154+2597T>C
NM_000083.2:c.806T>C	NP_000074.2:p.Val269Ala
NR_046453.1:n.896T>C
XM_011515781.1:c.853+548T>C	XP_011514083.1:n.853+548T>C
XM_017011739.1:c.403+2597T>C	XP_016867228.1:n.403+2597T>C
XM_017011740.1:c.403+2597T>C	XP_016867229.1:n.403+2597T>C
NM_000083.3:c.806T>C MANE Select	NP_000074.3:p.Val269Ala
NR_046453.2:n.911T>C