Canonical Allele Identifier: CA1748892771

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339290C= , CM000669.2:g.143339290C=	GRCh38
NC_000007.13:g.143036383C= , CM000669.1:g.143036383C=	GRCh37
NC_000007.12:g.142746505C=	NCBI36
NG_009815.1:g.28165C=
NG_009815.2:g.28165C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1439C= MANE Select	NP_000074.3:p.Pro480=
ENST00000343257.7:c.1439C= MANE Select	ENSP00000339867.2:p.Pro480=
NM_000083.2:c.1439C=	NP_000074.2:p.Pro480=
NR_046453.1:n.1379C=
NR_046453.2:n.1394C=
ENST00000343257.6:c.1439C=	ENSP00000339867.2:p.Pro480=
ENST00000432192.6:c.1263C=
ENST00000650516.2:c.1439C=	ENSP00000498052.2:p.Pro480=
XM_011515781.1:c.1463C=	XP_011514083.1:p.Pro488=
XM_011515782.1:c.185C=	XP_011514084.1:p.Pro62=
XM_011515782.2:c.185C=	XP_011514084.1:p.Pro62=
XM_017011739.1:c.1013C=	XP_016867228.1:p.Pro338=
XM_017011740.1:c.989C=	XP_016867229.1:p.Pro330=