Canonical Allele Identifier: CA369645418

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036401C>A (hg19) ; chr7:g.143339308C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339308C>A , CM000669.2:g.143339308C>A	GRCh38
NC_000007.13:g.143036401C>A , CM000669.1:g.143036401C>A	GRCh37
NC_000007.12:g.142746523C>A	NCBI36
NG_009815.1:g.28183C>A
NG_009815.2:g.28183C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1457C>A	ENSP00000498052.2:p.Pro486His
ENST00000343257.7:c.1457C>A MANE Select	ENSP00000339867.2:p.Pro486His
ENST00000432192.6:c.1281C>A
ENST00000343257.6:c.1457C>A	ENSP00000339867.2:p.Pro486His
NM_000083.2:c.1457C>A	NP_000074.2:p.Pro486His
NR_046453.1:n.1397C>A
XM_011515781.1:c.1481C>A	XP_011514083.1:p.Pro494His
XM_011515782.1:c.203C>A	XP_011514084.1:p.Pro68His
XM_011515782.2:c.203C>A	XP_011514084.1:p.Pro68His
XM_017011739.1:c.1031C>A	XP_016867228.1:p.Pro344His
XM_017011740.1:c.1007C>A	XP_016867229.1:p.Pro336His
NM_000083.3:c.1457C>A MANE Select	NP_000074.3:p.Pro486His
NR_046453.2:n.1412C>A