Canonical Allele Identifier: CA369645684

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036644G>C (hg19) ; chr7:g.143339551G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339551G>C , CM000669.2:g.143339551G>C	GRCh38
NC_000007.13:g.143036644G>C , CM000669.1:g.143036644G>C	GRCh37
NC_000007.12:g.142746766G>C	NCBI36
NG_009815.1:g.28426G>C
NG_009815.2:g.28426G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1512G>C	ENSP00000498052.2:p.Met504Ile
ENST00000343257.7:c.1512G>C MANE Select	ENSP00000339867.2:p.Met504Ile
ENST00000432192.6:c.1336G>C
ENST00000343257.6:c.1512G>C	ENSP00000339867.2:p.Met504Ile
NM_000083.2:c.1512G>C	NP_000074.2:p.Met504Ile
NR_046453.1:n.1452G>C
XM_011515781.1:c.1536G>C	XP_011514083.1:p.Met512Ile
XM_011515782.1:c.258G>C	XP_011514084.1:p.Met86Ile
XM_011515782.2:c.258G>C	XP_011514084.1:p.Met86Ile
XM_017011739.1:c.1086G>C	XP_016867228.1:p.Met362Ile
XM_017011740.1:c.1062G>C	XP_016867229.1:p.Met354Ile
NM_000083.3:c.1512G>C MANE Select	NP_000074.3:p.Met504Ile
NR_046453.2:n.1467G>C