Canonical Allele Identifier: CA4537280

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332474C>G , CM000669.2:g.143332474C>G	GRCh38
NC_000007.13:g.143029567C>G , CM000669.1:g.143029567C>G	GRCh37
NC_000007.12:g.142739689C>G	NCBI36
NG_009815.1:g.21349C>G
NG_009815.2:g.21349C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1222C>G MANE Select	NP_000074.3:p.Pro408Ala
ENST00000343257.7:c.1222C>G MANE Select	ENSP00000339867.2:p.Pro408Ala
NM_000083.2:c.1222C>G	NP_000074.2:p.Pro408Ala
NR_046453.1:n.1312C>G
NR_046453.2:n.1327C>G
ENST00000343257.6:c.1222C>G	ENSP00000339867.2:p.Pro408Ala
ENST00000432192.6:c.1046C>G
ENST00000650516.2:c.1222C>G	ENSP00000498052.2:p.Pro408Ala
XM_011515781.1:c.1222C>G	XP_011514083.1:p.Pro408Ala
XM_011515782.1:c.-3-250C>G	XP_011514084.1:n.-3-250C>G
XM_011515782.2:c.-3-250C>G	XP_011514084.1:n.-3-250C>G
XM_017011739.1:c.772C>G	XP_016867228.1:p.Pro258Ala
XM_017011740.1:c.772C>G	XP_016867229.1:p.Pro258Ala