Canonical Allele Identifier: CA369653151

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143047675T>A (hg19) ; chr7:g.143350582T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350582T>A , CM000669.2:g.143350582T>A	GRCh38
NC_000007.13:g.143047675T>A , CM000669.1:g.143047675T>A	GRCh37
NC_000007.12:g.142757797T>A	NCBI36
NG_009815.1:g.39457T>A
NG_009815.2:g.39457T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2523T>A	ENSP00000498052.2:p.Phe841Leu
ENST00000343257.7:c.2523T>A MANE Select	ENSP00000339867.2:p.Phe841Leu
ENST00000432192.6:c.2347T>A
ENST00000343257.6:c.2523T>A	ENSP00000339867.2:p.Phe841Leu
NM_000083.2:c.2523T>A	NP_000074.2:p.Phe841Leu
NR_046453.1:n.2463T>A
XM_011515781.1:c.2547T>A	XP_011514083.1:p.Phe849Leu
XM_011515782.1:c.1269T>A	XP_011514084.1:p.Phe423Leu
XM_011515782.2:c.1269T>A	XP_011514084.1:p.Phe423Leu
XM_017011739.1:c.2097T>A	XP_016867228.1:p.Phe699Leu
XM_017011740.1:c.2073T>A	XP_016867229.1:p.Phe691Leu
NM_000083.3:c.2523T>A MANE Select	NP_000074.3:p.Phe841Leu
NR_046453.2:n.2478T>A