Canonical Allele Identifier: CA369646353

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039027G>C (hg19) ; chr7:g.143341934G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341934G>C , CM000669.2:g.143341934G>C	GRCh38
NC_000007.13:g.143039027G>C , CM000669.1:g.143039027G>C	GRCh37
NC_000007.12:g.142749149G>C	NCBI36
NG_009815.1:g.30809G>C
NG_009815.2:g.30809G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1588G>C	ENSP00000498052.2:p.Ala530Pro
ENST00000343257.7:c.1588G>C MANE Select	ENSP00000339867.2:p.Ala530Pro
ENST00000432192.6:c.1412G>C
ENST00000343257.6:c.1588G>C	ENSP00000339867.2:p.Ala530Pro
NM_000083.2:c.1588G>C	NP_000074.2:p.Ala530Pro
NR_046453.1:n.1528G>C
XM_011515781.1:c.1612G>C	XP_011514083.1:p.Ala538Pro
XM_011515782.1:c.334G>C	XP_011514084.1:p.Ala112Pro
XM_011515782.2:c.334G>C	XP_011514084.1:p.Ala112Pro
XM_017011739.1:c.1162G>C	XP_016867228.1:p.Ala388Pro
XM_017011740.1:c.1138G>C	XP_016867229.1:p.Ala380Pro
NM_000083.3:c.1588G>C MANE Select	NP_000074.3:p.Ala530Pro
NR_046453.2:n.1543G>C