Canonical Allele Identifier: CA369646441

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039072A>G (hg19) ; chr7:g.143341979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341979A>G , CM000669.2:g.143341979A>G	GRCh38
NC_000007.13:g.143039072A>G , CM000669.1:g.143039072A>G	GRCh37
NC_000007.12:g.142749194A>G	NCBI36
NG_009815.1:g.30854A>G
NG_009815.2:g.30854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1633A>G	ENSP00000498052.2:p.Ile545Val
ENST00000343257.7:c.1633A>G MANE Select	ENSP00000339867.2:p.Ile545Val
ENST00000432192.6:c.1457A>G
ENST00000343257.6:c.1633A>G	ENSP00000339867.2:p.Ile545Val
NM_000083.2:c.1633A>G	NP_000074.2:p.Ile545Val
NR_046453.1:n.1573A>G
XM_011515781.1:c.1657A>G	XP_011514083.1:p.Ile553Val
XM_011515782.1:c.379A>G	XP_011514084.1:p.Ile127Val
XM_011515782.2:c.379A>G	XP_011514084.1:p.Ile127Val
XM_017011739.1:c.1207A>G	XP_016867228.1:p.Ile403Val
XM_017011740.1:c.1183A>G	XP_016867229.1:p.Ile395Val
NM_000083.3:c.1633A>G MANE Select	NP_000074.3:p.Ile545Val
NR_046453.2:n.1588A>G