Canonical Allele Identifier: CA369653559

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048752C>A (hg19) ; chr7:g.143351659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351659C>A , CM000669.2:g.143351659C>A	GRCh38
NC_000007.13:g.143048752C>A , CM000669.1:g.143048752C>A	GRCh37
NC_000007.12:g.142758874C>A	NCBI36
NG_009815.1:g.40534C>A
NG_009815.2:g.40534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2661C>A	ENSP00000498052.2:p.Phe887Leu
ENST00000343257.7:c.2661C>A MANE Select	ENSP00000339867.2:p.Phe887Leu
ENST00000432192.6:c.2485C>A
ENST00000343257.6:c.2661C>A	ENSP00000339867.2:p.Phe887Leu
NM_000083.2:c.2661C>A	NP_000074.2:p.Phe887Leu
NR_046453.1:n.2601C>A
XM_011515781.1:c.2685C>A	XP_011514083.1:p.Phe895Leu
XM_011515782.1:c.1407C>A	XP_011514084.1:p.Phe469Leu
XM_011515782.2:c.1407C>A	XP_011514084.1:p.Phe469Leu
XM_017011739.1:c.2235C>A	XP_016867228.1:p.Phe745Leu
XM_017011740.1:c.2211C>A	XP_016867229.1:p.Phe737Leu
NM_000083.3:c.2661C>A MANE Select	NP_000074.3:p.Phe887Leu
NR_046453.2:n.2616C>A