Canonical Allele Identifier: CA369650842

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345763G>C , CM000669.2:g.143345763G>C	GRCh38
NC_000007.13:g.143042856G>C , CM000669.1:g.143042856G>C	GRCh37
NC_000007.12:g.142752978G>C	NCBI36
NG_009815.1:g.34638G>C
NG_009815.2:g.34638G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2172+1G>C MANE Select	NP_000074.3:n.2172+1G>C
ENST00000343257.7:c.2172+1G>C MANE Select	ENSP00000339867.2:n.2172+1G>C
NM_000083.2:c.2172+1G>C	NP_000074.2:n.2172+1G>C
NR_046453.1:n.2112+1G>C
NR_046453.2:n.2127+1G>C
ENST00000343257.6:c.2172+1G>C	ENSP00000339867.2:n.2172+1G>C
ENST00000432192.6:c.1996+1G>C
ENST00000650516.2:c.2172+1G>C	ENSP00000498052.2:n.2172+1G>C
XM_011515781.1:c.2196+1G>C	XP_011514083.1:n.2196+1G>C
XM_011515782.1:c.918+1G>C	XP_011514084.1:n.918+1G>C
XM_011515782.2:c.918+1G>C	XP_011514084.1:n.918+1G>C
XM_017011739.1:c.1746+1G>C	XP_016867228.1:n.1746+1G>C
XM_017011740.1:c.1722+1G>C	XP_016867229.1:n.1722+1G>C