Canonical Allele Identifier: CA369646343

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039022G>T (hg19) ; chr7:g.143341929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341929G>T , CM000669.2:g.143341929G>T	GRCh38
NC_000007.13:g.143039022G>T , CM000669.1:g.143039022G>T	GRCh37
NC_000007.12:g.142749144G>T	NCBI36
NG_009815.1:g.30804G>T
NG_009815.2:g.30804G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1583G>T	ENSP00000498052.2:p.Gly528Val
ENST00000343257.7:c.1583G>T MANE Select	ENSP00000339867.2:p.Gly528Val
ENST00000432192.6:c.1407G>T
ENST00000343257.6:c.1583G>T	ENSP00000339867.2:p.Gly528Val
NM_000083.2:c.1583G>T	NP_000074.2:p.Gly528Val
NR_046453.1:n.1523G>T
XM_011515781.1:c.1607G>T	XP_011514083.1:p.Gly536Val
XM_011515782.1:c.329G>T	XP_011514084.1:p.Gly110Val
XM_011515782.2:c.329G>T	XP_011514084.1:p.Gly110Val
XM_017011739.1:c.1157G>T	XP_016867228.1:p.Gly386Val
XM_017011740.1:c.1133G>T	XP_016867229.1:p.Gly378Val
NM_000083.3:c.1583G>T MANE Select	NP_000074.3:p.Gly528Val
NR_046453.2:n.1538G>T