Canonical Allele Identifier: CA369643884

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029850G>A (hg19) ; chr7:g.143332757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332757G>A , CM000669.2:g.143332757G>A	GRCh38
NC_000007.13:g.143029850G>A , CM000669.1:g.143029850G>A	GRCh37
NC_000007.12:g.142739972G>A	NCBI36
NG_009815.1:g.21632G>A
NG_009815.2:g.21632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1285G>A	ENSP00000498052.2:p.Asp429Asn
ENST00000343257.7:c.1285G>A MANE Select	ENSP00000339867.2:p.Asp429Asn
ENST00000432192.6:c.1109G>A
ENST00000343257.6:c.1285G>A	ENSP00000339867.2:p.Asp429Asn
NM_000083.2:c.1285G>A	NP_000074.2:p.Asp429Asn
NR_046453.1:n.1341+254G>A
XM_011515781.1:c.1309G>A	XP_011514083.1:p.Asp437Asn
XM_011515782.1:c.31G>A	XP_011514084.1:p.Asp11Asn
XM_011515782.2:c.31G>A	XP_011514084.1:p.Asp11Asn
XM_017011739.1:c.859G>A	XP_016867228.1:p.Asp287Asn
XM_017011740.1:c.835G>A	XP_016867229.1:p.Asp279Asn
NM_000083.3:c.1285G>A MANE Select	NP_000074.3:p.Asp429Asn
NR_046453.2:n.1356+254G>A