Canonical Allele Identifier: CA369653422

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048687C>A (hg19) ; chr7:g.143351594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351594C>A , CM000669.2:g.143351594C>A	GRCh38
NC_000007.13:g.143048687C>A , CM000669.1:g.143048687C>A	GRCh37
NC_000007.12:g.142758809C>A	NCBI36
NG_009815.1:g.40469C>A
NG_009815.2:g.40469C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596C>A	ENSP00000498052.2:p.Leu866Ile
ENST00000343257.7:c.2596C>A MANE Select	ENSP00000339867.2:p.Leu866Ile
ENST00000432192.6:c.2420C>A
ENST00000343257.6:c.2596C>A	ENSP00000339867.2:p.Leu866Ile
NM_000083.2:c.2596C>A	NP_000074.2:p.Leu866Ile
NR_046453.1:n.2536C>A
XM_011515781.1:c.2620C>A	XP_011514083.1:p.Leu874Ile
XM_011515782.1:c.1342C>A	XP_011514084.1:p.Leu448Ile
XM_011515782.2:c.1342C>A	XP_011514084.1:p.Leu448Ile
XM_017011739.1:c.2170C>A	XP_016867228.1:p.Leu724Ile
XM_017011740.1:c.2146C>A	XP_016867229.1:p.Leu716Ile
NM_000083.3:c.2596C>A MANE Select	NP_000074.3:p.Leu866Ile
NR_046453.2:n.2551C>A