Canonical Allele Identifier: CA2580714959

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341867A>T , CM000669.2:g.143341867A>T	GRCh38
NC_000007.13:g.143038960A>T , CM000669.1:g.143038960A>T	GRCh37
NC_000007.12:g.142749082A>T	NCBI36
NG_009815.1:g.30742A>T
NG_009815.2:g.30742A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1583-62A>T	ENSP00000498052.2:n.1583-62A>T
ENST00000343257.7:c.1583-62A>T MANE Select	ENSP00000339867.2:n.1583-62A>T
ENST00000432192.6:c.1407-62A>T
ENST00000343257.6:c.1583-62A>T	ENSP00000339867.2:n.1583-62A>T
NM_000083.2:c.1583-62A>T	NP_000074.2:n.1583-62A>T
NR_046453.1:n.1523-62A>T
XM_011515781.1:c.1607-62A>T	XP_011514083.1:n.1607-62A>T
XM_011515782.1:c.329-62A>T	XP_011514084.1:n.329-62A>T
XM_011515782.2:c.329-62A>T	XP_011514084.1:n.329-62A>T
XM_017011739.1:c.1157-62A>T	XP_016867228.1:n.1157-62A>T
XM_017011740.1:c.1133-62A>T	XP_016867229.1:n.1133-62A>T
NM_000083.3:c.1583-62A>T MANE Select	NP_000074.3:n.1583-62A>T
NR_046453.2:n.1538-62A>T