Canonical Allele Identifier: CA369645945

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339610A>G , CM000669.2:g.143339610A>G	GRCh38
NC_000007.13:g.143036703A>G , CM000669.1:g.143036703A>G	GRCh37
NC_000007.12:g.142746825A>G	NCBI36
NG_009815.1:g.28485A>G
NG_009815.2:g.28485A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1571A>G MANE Select	NP_000074.3:p.Tyr524Cys
ENST00000343257.7:c.1571A>G MANE Select	ENSP00000339867.2:p.Tyr524Cys
NM_000083.2:c.1571A>G	NP_000074.2:p.Tyr524Cys
NR_046453.1:n.1511A>G
NR_046453.2:n.1526A>G
ENST00000343257.6:c.1571A>G	ENSP00000339867.2:p.Tyr524Cys
ENST00000432192.6:c.1395A>G
ENST00000650516.2:c.1571A>G	ENSP00000498052.2:p.Tyr524Cys
XM_011515781.1:c.1595A>G	XP_011514083.1:p.Tyr532Cys
XM_011515782.1:c.317A>G	XP_011514084.1:p.Tyr106Cys
XM_011515782.2:c.317A>G	XP_011514084.1:p.Tyr106Cys
XM_017011739.1:c.1145A>G	XP_016867228.1:p.Tyr382Cys
XM_017011740.1:c.1121A>G	XP_016867229.1:p.Tyr374Cys