Canonical Allele Identifier: CA369654052

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048968T>G (hg19) ; chr7:g.143351875T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351875T>G , CM000669.2:g.143351875T>G	GRCh38
NC_000007.13:g.143048968T>G , CM000669.1:g.143048968T>G	GRCh37
NC_000007.12:g.142759090T>G	NCBI36
NG_009815.1:g.40750T>G
NG_009815.2:g.40750T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2877T>G	ENSP00000498052.2:p.Ser959Arg
ENST00000343257.7:c.2877T>G MANE Select	ENSP00000339867.2:p.Ser959Arg
ENST00000343257.6:c.2877T>G	ENSP00000339867.2:p.Ser959Arg
NM_000083.2:c.2877T>G	NP_000074.2:p.Ser959Arg
NR_046453.1:n.2817T>G
XM_011515781.1:c.2901T>G	XP_011514083.1:p.Ser967Arg
XM_011515782.1:c.1623T>G	XP_011514084.1:p.Ser541Arg
XM_011515782.2:c.1623T>G	XP_011514084.1:p.Ser541Arg
XM_017011739.1:c.2451T>G	XP_016867228.1:p.Ser817Arg
XM_017011740.1:c.2427T>G	XP_016867229.1:p.Ser809Arg
NM_000083.3:c.2877T>G MANE Select	NP_000074.3:p.Ser959Arg
NR_046453.2:n.2832T>G