Canonical Allele Identifier: CA369641625

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027930T>C (hg19) ; chr7:g.143330837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330837T>C , CM000669.2:g.143330837T>C	GRCh38
NC_000007.13:g.143027930T>C , CM000669.1:g.143027930T>C	GRCh37
NC_000007.12:g.142738052T>C	NCBI36
NG_009815.1:g.19712T>C
NG_009815.2:g.19712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.919T>C	ENSP00000498052.2:p.Phe307Leu
ENST00000343257.7:c.919T>C MANE Select	ENSP00000339867.2:p.Phe307Leu
ENST00000432192.6:c.743T>C
ENST00000455478.6:c.507T>C	ENSP00000400027.2:n.507T>C
ENST00000650516.1:c.919T>C	ENSP00000498052.1:p.Phe307Leu
ENST00000343257.6:c.919T>C	ENSP00000339867.2:p.Phe307Leu
ENST00000432192.5:c.433T>C
ENST00000455478.5:c.511T>C
ENST00000495612.1:n.220T>C
NM_000083.2:c.919T>C	NP_000074.2:p.Phe307Leu
NR_046453.1:n.1009T>C
XM_011515781.1:c.919T>C	XP_011514083.1:p.Phe307Leu
XM_017011739.1:c.469T>C	XP_016867228.1:p.Phe157Leu
XM_017011740.1:c.469T>C	XP_016867229.1:p.Phe157Leu
NM_000083.3:c.919T>C MANE Select	NP_000074.3:p.Phe307Leu
NR_046453.2:n.1024T>C