Canonical Allele Identifier: CA369644424

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029965A>C (hg19) ; chr7:g.143332872A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332872A>C , CM000669.2:g.143332872A>C	GRCh38
NC_000007.13:g.143029965A>C , CM000669.1:g.143029965A>C	GRCh37
NC_000007.12:g.142740087A>C	NCBI36
NG_009815.1:g.21747A>C
NG_009815.2:g.21747A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1400A>C	ENSP00000498052.2:p.Lys467Thr
ENST00000343257.7:c.1400A>C MANE Select	ENSP00000339867.2:p.Lys467Thr
ENST00000432192.6:c.1224A>C
ENST00000343257.6:c.1400A>C	ENSP00000339867.2:p.Lys467Thr
NM_000083.2:c.1400A>C	NP_000074.2:p.Lys467Thr
NR_046453.1:n.1341+369A>C
XM_011515781.1:c.1424A>C	XP_011514083.1:p.Lys475Thr
XM_011515782.1:c.146A>C	XP_011514084.1:p.Lys49Thr
XM_011515782.2:c.146A>C	XP_011514084.1:p.Lys49Thr
XM_017011739.1:c.974A>C	XP_016867228.1:p.Lys325Thr
XM_017011740.1:c.950A>C	XP_016867229.1:p.Lys317Thr
NM_000083.3:c.1400A>C MANE Select	NP_000074.3:p.Lys467Thr
NR_046453.2:n.1356+369A>C