Canonical Allele Identifier: CA369683801

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 585690
• ClinVar RCV Id: RCV000711234 ; RCV001343925
• dbSNP Id: rs992335710
• MyVariant Identifiers: chr7:g.143018538A>T (hg19) ; chr7:g.143321445A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321445A>T , CM000669.2:g.143321445A>T	GRCh38
NC_000007.13:g.143018538A>T , CM000669.1:g.143018538A>T	GRCh37
NC_000007.12:g.142728660A>T	NCBI36
NG_009815.1:g.10320A>T
NG_009815.2:g.10320A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.514A>T	ENSP00000498052.2:p.Ile172Phe
ENST00000343257.7:c.514A>T MANE Select	ENSP00000339867.2:p.Ile172Phe
ENST00000432192.6:c.282A>T
ENST00000650516.1:c.514A>T	ENSP00000498052.1:p.Ile172Phe
ENST00000343257.6:c.514A>T	ENSP00000339867.2:p.Ile172Phe
NM_000083.2:c.514A>T	NP_000074.2:p.Ile172Phe
NR_046453.1:n.601A>T
XM_011515781.1:c.514A>T	XP_011514083.1:p.Ile172Phe
XM_017011739.1:c.221A>T	XP_016867228.1:p.His74Leu
XM_017011740.1:c.221A>T	XP_016867229.1:p.His74Leu
NM_000083.3:c.514A>T MANE Select	NP_000074.3:p.Ile172Phe
NR_046453.2:n.616A>T