Canonical Allele Identifier: CA369683698

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321430T>C , CM000669.2:g.143321430T>C	GRCh38
NC_000007.13:g.143018523T>C , CM000669.1:g.143018523T>C	GRCh37
NC_000007.12:g.142728645T>C	NCBI36
NG_009815.1:g.10305T>C
NG_009815.2:g.10305T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.499T>C MANE Select	NP_000074.3:p.Phe167Leu
ENST00000343257.7:c.499T>C MANE Select	ENSP00000339867.2:p.Phe167Leu
NM_000083.2:c.499T>C	NP_000074.2:p.Phe167Leu
NR_046453.1:n.586T>C
NR_046453.2:n.601T>C
ENST00000343257.6:c.499T>C	ENSP00000339867.2:p.Phe167Leu
ENST00000432192.6:c.267T>C
ENST00000650516.1:c.499T>C	ENSP00000498052.1:p.Phe167Leu
ENST00000650516.2:c.499T>C	ENSP00000498052.2:p.Phe167Leu
XM_011515781.1:c.499T>C	XP_011514083.1:p.Phe167Leu
XM_017011739.1:c.206T>C	XP_016867228.1:p.Leu69Pro
XM_017011740.1:c.206T>C	XP_016867229.1:p.Leu69Pro