Canonical Allele Identifier: CA369646495

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342003A>T , CM000669.2:g.143342003A>T	GRCh38
NC_000007.13:g.143039096A>T , CM000669.1:g.143039096A>T	GRCh37
NC_000007.12:g.142749218A>T	NCBI36
NG_009815.1:g.30878A>T
NG_009815.2:g.30878A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1657A>T MANE Select	NP_000074.3:p.Ile553Phe
ENST00000343257.7:c.1657A>T MANE Select	ENSP00000339867.2:p.Ile553Phe
NM_000083.2:c.1657A>T	NP_000074.2:p.Ile553Phe
NR_046453.1:n.1597A>T
NR_046453.2:n.1612A>T
ENST00000343257.6:c.1657A>T	ENSP00000339867.2:p.Ile553Phe
ENST00000432192.6:c.1481A>T
ENST00000650516.2:c.1657A>T	ENSP00000498052.2:p.Ile553Phe
XM_011515781.1:c.1681A>T	XP_011514083.1:p.Ile561Phe
XM_011515782.1:c.403A>T	XP_011514084.1:p.Ile135Phe
XM_011515782.2:c.403A>T	XP_011514084.1:p.Ile135Phe
XM_017011739.1:c.1231A>T	XP_016867228.1:p.Ile411Phe
XM_017011740.1:c.1207A>T	XP_016867229.1:p.Ile403Phe