Canonical Allele Identifier: CA369653163

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350587T>C , CM000669.2:g.143350587T>C	GRCh38
NC_000007.13:g.143047680T>C , CM000669.1:g.143047680T>C	GRCh37
NC_000007.12:g.142757802T>C	NCBI36
NG_009815.1:g.39462T>C
NG_009815.2:g.39462T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2528T>C MANE Select	NP_000074.3:p.Leu843Pro
ENST00000343257.7:c.2528T>C MANE Select	ENSP00000339867.2:p.Leu843Pro
NM_000083.2:c.2528T>C	NP_000074.2:p.Leu843Pro
NR_046453.1:n.2468T>C
NR_046453.2:n.2483T>C
ENST00000343257.6:c.2528T>C	ENSP00000339867.2:p.Leu843Pro
ENST00000432192.6:c.2352T>C
ENST00000650516.2:c.2528T>C	ENSP00000498052.2:p.Leu843Pro
XM_011515781.1:c.2552T>C	XP_011514083.1:p.Leu851Pro
XM_011515782.1:c.1274T>C	XP_011514084.1:p.Leu425Pro
XM_011515782.2:c.1274T>C	XP_011514084.1:p.Leu425Pro
XM_017011739.1:c.2102T>C	XP_016867228.1:p.Leu701Pro
XM_017011740.1:c.2078T>C	XP_016867229.1:p.Leu693Pro