Canonical Allele Identifier: CA369645259

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036358A>C (hg19) ; chr7:g.143339265A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339265A>C , CM000669.2:g.143339265A>C	GRCh38
NC_000007.13:g.143036358A>C , CM000669.1:g.143036358A>C	GRCh37
NC_000007.12:g.142746480A>C	NCBI36
NG_009815.1:g.28140A>C
NG_009815.2:g.28140A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1414A>C	ENSP00000498052.2:p.Ile472Leu
ENST00000343257.7:c.1414A>C MANE Select	ENSP00000339867.2:p.Ile472Leu
ENST00000432192.6:c.1238A>C
ENST00000343257.6:c.1414A>C	ENSP00000339867.2:p.Ile472Leu
NM_000083.2:c.1414A>C	NP_000074.2:p.Ile472Leu
NR_046453.1:n.1354A>C
XM_011515781.1:c.1438A>C	XP_011514083.1:p.Ile480Leu
XM_011515782.1:c.160A>C	XP_011514084.1:p.Ile54Leu
XM_011515782.2:c.160A>C	XP_011514084.1:p.Ile54Leu
XM_017011739.1:c.988A>C	XP_016867228.1:p.Ile330Leu
XM_017011740.1:c.964A>C	XP_016867229.1:p.Ile322Leu
NM_000083.3:c.1414A>C MANE Select	NP_000074.3:p.Ile472Leu
NR_046453.2:n.1369A>C