Canonical Allele Identifier: CA369645393

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339301T>C , CM000669.2:g.143339301T>C	GRCh38
NC_000007.13:g.143036394T>C , CM000669.1:g.143036394T>C	GRCh37
NC_000007.12:g.142746516T>C	NCBI36
NG_009815.1:g.28176T>C
NG_009815.2:g.28176T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1450T>C MANE Select	NP_000074.3:p.Phe484Leu
ENST00000343257.7:c.1450T>C MANE Select	ENSP00000339867.2:p.Phe484Leu
NM_000083.2:c.1450T>C	NP_000074.2:p.Phe484Leu
NR_046453.1:n.1390T>C
NR_046453.2:n.1405T>C
ENST00000343257.6:c.1450T>C	ENSP00000339867.2:p.Phe484Leu
ENST00000432192.6:c.1274T>C
ENST00000650516.2:c.1450T>C	ENSP00000498052.2:p.Phe484Leu
XM_011515781.1:c.1474T>C	XP_011514083.1:p.Phe492Leu
XM_011515782.1:c.196T>C	XP_011514084.1:p.Phe66Leu
XM_011515782.2:c.196T>C	XP_011514084.1:p.Phe66Leu
XM_017011739.1:c.1024T>C	XP_016867228.1:p.Phe342Leu
XM_017011740.1:c.1000T>C	XP_016867229.1:p.Phe334Leu