Canonical Allele Identifier: CA369645404

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 804701
• ClinVar RCV Id: RCV000991818
• dbSNP Id: rs1586507590
• MyVariant Identifiers: chr7:g.143036398T>G (hg19) ; chr7:g.143339305T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339305T>G , CM000669.2:g.143339305T>G	GRCh38
NC_000007.13:g.143036398T>G , CM000669.1:g.143036398T>G	GRCh37
NC_000007.12:g.142746520T>G	NCBI36
NG_009815.1:g.28180T>G
NG_009815.2:g.28180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1454T>G	ENSP00000498052.2:p.Met485Arg
ENST00000343257.7:c.1454T>G MANE Select	ENSP00000339867.2:p.Met485Arg
ENST00000432192.6:c.1278T>G
ENST00000343257.6:c.1454T>G	ENSP00000339867.2:p.Met485Arg
NM_000083.2:c.1454T>G	NP_000074.2:p.Met485Arg
NR_046453.1:n.1394T>G
XM_011515781.1:c.1478T>G	XP_011514083.1:p.Met493Arg
XM_011515782.1:c.200T>G	XP_011514084.1:p.Met67Arg
XM_011515782.2:c.200T>G	XP_011514084.1:p.Met67Arg
XM_017011739.1:c.1028T>G	XP_016867228.1:p.Met343Arg
XM_017011740.1:c.1004T>G	XP_016867229.1:p.Met335Arg
NM_000083.3:c.1454T>G MANE Select	NP_000074.3:p.Met485Arg
NR_046453.2:n.1409T>G