Canonical Allele Identifier: CA369654233

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143049017C>G (hg19) ; chr7:g.143351924C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351924C>G , CM000669.2:g.143351924C>G	GRCh38
NC_000007.13:g.143049017C>G , CM000669.1:g.143049017C>G	GRCh37
NC_000007.12:g.142759139C>G	NCBI36
NG_009815.1:g.40799C>G
NG_009815.2:g.40799C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2926C>G	ENSP00000498052.2:p.Arg976Gly
ENST00000343257.7:c.2926C>G MANE Select	ENSP00000339867.2:p.Arg976Gly
ENST00000343257.6:c.2926C>G	ENSP00000339867.2:p.Arg976Gly
NM_000083.2:c.2926C>G	NP_000074.2:p.Arg976Gly
NR_046453.1:n.2866C>G
XM_011515781.1:c.2950C>G	XP_011514083.1:p.Arg984Gly
XM_011515782.1:c.1672C>G	XP_011514084.1:p.Arg558Gly
XM_011515782.2:c.1672C>G	XP_011514084.1:p.Arg558Gly
XM_017011739.1:c.2500C>G	XP_016867228.1:p.Arg834Gly
XM_017011740.1:c.2476C>G	XP_016867229.1:p.Arg826Gly
NM_000083.3:c.2926C>G MANE Select	NP_000074.3:p.Arg976Gly
NR_046453.2:n.2881C>G