Canonical Allele Identifier: CA369653224

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350609C>A , CM000669.2:g.143350609C>A	GRCh38
NC_000007.13:g.143047702C>A , CM000669.1:g.143047702C>A	GRCh37
NC_000007.12:g.142757824C>A	NCBI36
NG_009815.1:g.39484C>A
NG_009815.2:g.39484C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2550C>A MANE Select	NP_000074.3:p.Tyr850Ter
ENST00000343257.7:c.2550C>A MANE Select	ENSP00000339867.2:p.Tyr850Ter
NM_000083.2:c.2550C>A	NP_000074.2:p.Tyr850Ter
NR_046453.1:n.2490C>A
NR_046453.2:n.2505C>A
ENST00000343257.6:c.2550C>A	ENSP00000339867.2:p.Tyr850Ter
ENST00000432192.6:c.2374C>A
ENST00000650516.2:c.2550C>A	ENSP00000498052.2:p.Tyr850Ter
XM_011515781.1:c.2574C>A	XP_011514083.1:p.Tyr858Ter
XM_011515782.1:c.1296C>A	XP_011514084.1:p.Tyr432Ter
XM_011515782.2:c.1296C>A	XP_011514084.1:p.Tyr432Ter
XM_017011739.1:c.2124C>A	XP_016867228.1:p.Tyr708Ter
XM_017011740.1:c.2100C>A	XP_016867229.1:p.Tyr700Ter