Canonical Allele Identifier: CA369643886

Gene: CLCN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1285G>C	ENSP00000498052.2:p.Asp429His
ENST00000343257.7:c.1285G>C MANE Select	ENSP00000339867.2:p.Asp429His
ENST00000432192.6:c.1109G>C
ENST00000343257.6:c.1285G>C	ENSP00000339867.2:p.Asp429His
NM_000083.2:c.1285G>C	NP_000074.2:p.Asp429His
NR_046453.1:n.1341+254G>C
XM_011515781.1:c.1309G>C	XP_011514083.1:p.Asp437His
XM_011515782.1:c.31G>C	XP_011514084.1:p.Asp11His
XM_011515782.2:c.31G>C	XP_011514084.1:p.Asp11His
XM_017011739.1:c.859G>C	XP_016867228.1:p.Asp287His
XM_017011740.1:c.835G>C	XP_016867229.1:p.Asp279His
NM_000083.3:c.1285G>C MANE Select	NP_000074.3:p.Asp429His
NR_046453.2:n.1356+254G>C