Canonical Allele Identifier: CA369653556

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048751T>G (hg19) ; chr7:g.143351658T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351658T>G , CM000669.2:g.143351658T>G	GRCh38
NC_000007.13:g.143048751T>G , CM000669.1:g.143048751T>G	GRCh37
NC_000007.12:g.142758873T>G	NCBI36
NG_009815.1:g.40533T>G
NG_009815.2:g.40533T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2660T>G	ENSP00000498052.2:p.Phe887Cys
ENST00000343257.7:c.2660T>G MANE Select	ENSP00000339867.2:p.Phe887Cys
ENST00000432192.6:c.2484T>G
ENST00000343257.6:c.2660T>G	ENSP00000339867.2:p.Phe887Cys
NM_000083.2:c.2660T>G	NP_000074.2:p.Phe887Cys
NR_046453.1:n.2600T>G
XM_011515781.1:c.2684T>G	XP_011514083.1:p.Phe895Cys
XM_011515782.1:c.1406T>G	XP_011514084.1:p.Phe469Cys
XM_011515782.2:c.1406T>G	XP_011514084.1:p.Phe469Cys
XM_017011739.1:c.2234T>G	XP_016867228.1:p.Phe745Cys
XM_017011740.1:c.2210T>G	XP_016867229.1:p.Phe737Cys
NM_000083.3:c.2660T>G MANE Select	NP_000074.3:p.Phe887Cys
NR_046453.2:n.2615T>G