Canonical Allele Identifier: CA4537130

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324468T>C , CM000669.2:g.143324468T>C	GRCh38
NC_000007.13:g.143021561T>C , CM000669.1:g.143021561T>C	GRCh37
NC_000007.12:g.142731683T>C	NCBI36
NG_009815.1:g.13343T>C
NG_009815.2:g.13343T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.829T>C MANE Select	NP_000074.3:p.Cys277Arg
ENST00000343257.7:c.829T>C MANE Select	ENSP00000339867.2:p.Cys277Arg
NM_000083.2:c.829T>C	NP_000074.2:p.Cys277Arg
NR_046453.1:n.919T>C
NR_046453.2:n.934T>C
ENST00000343257.6:c.829T>C	ENSP00000339867.2:p.Cys277Arg
ENST00000432192.5:c.343T>C
ENST00000432192.6:c.653T>C
ENST00000455478.5:c.421T>C
ENST00000455478.6:c.417T>C	ENSP00000400027.2:n.417T>C
ENST00000495612.1:n.154+2620T>C
ENST00000650516.1:c.853+571T>C	ENSP00000498052.1:n.853+571T>C
ENST00000650516.2:c.853+571T>C	ENSP00000498052.2:n.853+571T>C
XM_011515781.1:c.853+571T>C	XP_011514083.1:n.853+571T>C
XM_017011739.1:c.403+2620T>C	XP_016867228.1:n.403+2620T>C
XM_017011740.1:c.403+2620T>C	XP_016867229.1:n.403+2620T>C