Canonical Allele Identifier: CA369645399

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339303C>G , CM000669.2:g.143339303C>G	GRCh38
NC_000007.13:g.143036396C>G , CM000669.1:g.143036396C>G	GRCh37
NC_000007.12:g.142746518C>G	NCBI36
NG_009815.1:g.28178C>G
NG_009815.2:g.28178C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1452C>G MANE Select	NP_000074.3:p.Phe484Leu
ENST00000343257.7:c.1452C>G MANE Select	ENSP00000339867.2:p.Phe484Leu
NM_000083.2:c.1452C>G	NP_000074.2:p.Phe484Leu
NR_046453.1:n.1392C>G
NR_046453.2:n.1407C>G
ENST00000343257.6:c.1452C>G	ENSP00000339867.2:p.Phe484Leu
ENST00000432192.6:c.1276C>G
ENST00000650516.2:c.1452C>G	ENSP00000498052.2:p.Phe484Leu
XM_011515781.1:c.1476C>G	XP_011514083.1:p.Phe492Leu
XM_011515782.1:c.198C>G	XP_011514084.1:p.Phe66Leu
XM_011515782.2:c.198C>G	XP_011514084.1:p.Phe66Leu
XM_017011739.1:c.1026C>G	XP_016867228.1:p.Phe342Leu
XM_017011740.1:c.1002C>G	XP_016867229.1:p.Phe334Leu