Canonical Allele Identifier: CA369684256

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321723A>T , CM000669.2:g.143321723A>T	GRCh38
NC_000007.13:g.143018816A>T , CM000669.1:g.143018816A>T	GRCh37
NC_000007.12:g.142728938A>T	NCBI36
NG_009815.1:g.10598A>T
NG_009815.2:g.10598A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.571A>T MANE Select	NP_000074.3:p.Ile191Phe
ENST00000343257.7:c.571A>T MANE Select	ENSP00000339867.2:p.Ile191Phe
NM_000083.2:c.571A>T	NP_000074.2:p.Ile191Phe
NR_046453.1:n.658A>T
NR_046453.2:n.673A>T
ENST00000343257.6:c.571A>T	ENSP00000339867.2:p.Ile191Phe
ENST00000432192.5:c.29A>T
ENST00000432192.6:c.339A>T
ENST00000455478.5:c.29A>T
ENST00000455478.6:c.25A>T	ENSP00000400027.2:p.Ile9Phe
ENST00000495612.1:n.29A>T
ENST00000650516.1:c.571A>T	ENSP00000498052.1:p.Ile191Phe
ENST00000650516.2:c.571A>T	ENSP00000498052.2:p.Ile191Phe
XM_011515781.1:c.571A>T	XP_011514083.1:p.Ile191Phe
XM_017011739.1:c.278A>T	XP_016867228.1:p.Asn93Ile
XM_017011740.1:c.278A>T	XP_016867229.1:p.Asn93Ile