Canonical Allele Identifier: CA369645402

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339305T>A , CM000669.2:g.143339305T>A	GRCh38
NC_000007.13:g.143036398T>A , CM000669.1:g.143036398T>A	GRCh37
NC_000007.12:g.142746520T>A	NCBI36
NG_009815.1:g.28180T>A
NG_009815.2:g.28180T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1454T>A MANE Select	NP_000074.3:p.Met485Lys
ENST00000343257.7:c.1454T>A MANE Select	ENSP00000339867.2:p.Met485Lys
NM_000083.2:c.1454T>A	NP_000074.2:p.Met485Lys
NR_046453.1:n.1394T>A
NR_046453.2:n.1409T>A
ENST00000343257.6:c.1454T>A	ENSP00000339867.2:p.Met485Lys
ENST00000432192.6:c.1278T>A
ENST00000650516.2:c.1454T>A	ENSP00000498052.2:p.Met485Lys
XM_011515781.1:c.1478T>A	XP_011514083.1:p.Met493Lys
XM_011515782.1:c.200T>A	XP_011514084.1:p.Met67Lys
XM_011515782.2:c.200T>A	XP_011514084.1:p.Met67Lys
XM_017011739.1:c.1028T>A	XP_016867228.1:p.Met343Lys
XM_017011740.1:c.1004T>A	XP_016867229.1:p.Met335Lys