Canonical Allele Identifier: CA369643968

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332770G>C , CM000669.2:g.143332770G>C	GRCh38
NC_000007.13:g.143029863G>C , CM000669.1:g.143029863G>C	GRCh37
NC_000007.12:g.142739985G>C	NCBI36
NG_009815.1:g.21645G>C
NG_009815.2:g.21645G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1298G>C MANE Select	NP_000074.3:p.Trp433Ser
ENST00000343257.7:c.1298G>C MANE Select	ENSP00000339867.2:p.Trp433Ser
NM_000083.2:c.1298G>C	NP_000074.2:p.Trp433Ser
NR_046453.1:n.1341+267G>C
NR_046453.2:n.1356+267G>C
ENST00000343257.6:c.1298G>C	ENSP00000339867.2:p.Trp433Ser
ENST00000432192.6:c.1122G>C
ENST00000650516.2:c.1298G>C	ENSP00000498052.2:p.Trp433Ser
XM_011515781.1:c.1322G>C	XP_011514083.1:p.Trp441Ser
XM_011515782.1:c.44G>C	XP_011514084.1:p.Trp15Ser
XM_011515782.2:c.44G>C	XP_011514084.1:p.Trp15Ser
XM_017011739.1:c.872G>C	XP_016867228.1:p.Trp291Ser
XM_017011740.1:c.848G>C	XP_016867229.1:p.Trp283Ser