Canonical Allele Identifier: CA4537603

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143346225A>C , CM000669.2:g.143346225A>C	GRCh38
NC_000007.13:g.143043318A>C , CM000669.1:g.143043318A>C	GRCh37
NC_000007.12:g.142753440A>C	NCBI36
NG_009815.1:g.35100A>C
NG_009815.2:g.35100A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2258A>C MANE Select	NP_000074.3:p.Gln753Pro
ENST00000343257.7:c.2258A>C MANE Select	ENSP00000339867.2:p.Gln753Pro
NM_000083.2:c.2258A>C	NP_000074.2:p.Gln753Pro
NR_046453.1:n.2198A>C
NR_046453.2:n.2213A>C
ENST00000343257.6:c.2258A>C	ENSP00000339867.2:p.Gln753Pro
ENST00000432192.6:c.2082A>C
ENST00000650516.2:c.2258A>C	ENSP00000498052.2:p.Gln753Pro
XM_011515781.1:c.2282A>C	XP_011514083.1:p.Gln761Pro
XM_011515782.1:c.1004A>C	XP_011514084.1:p.Gln335Pro
XM_011515782.2:c.1004A>C	XP_011514084.1:p.Gln335Pro
XM_017011739.1:c.1832A>C	XP_016867228.1:p.Gln611Pro
XM_017011740.1:c.1808A>C	XP_016867229.1:p.Gln603Pro