Canonical Allele Identifier: CA369643534

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029582T>A (hg19) ; chr7:g.143332489T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332489T>A , CM000669.2:g.143332489T>A	GRCh38
NC_000007.13:g.143029582T>A , CM000669.1:g.143029582T>A	GRCh37
NC_000007.12:g.142739704T>A	NCBI36
NG_009815.1:g.21364T>A
NG_009815.2:g.21364T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1237T>A	ENSP00000498052.2:p.Phe413Ile
ENST00000343257.7:c.1237T>A MANE Select	ENSP00000339867.2:p.Phe413Ile
ENST00000432192.6:c.1061T>A
ENST00000343257.6:c.1237T>A	ENSP00000339867.2:p.Phe413Ile
NM_000083.2:c.1237T>A	NP_000074.2:p.Phe413Ile
NR_046453.1:n.1327T>A
XM_011515781.1:c.1237T>A	XP_011514083.1:p.Phe413Ile
XM_011515782.1:c.-3-235T>A	XP_011514084.1:n.-3-235T>A
XM_011515782.2:c.-3-235T>A	XP_011514084.1:n.-3-235T>A
XM_017011739.1:c.787T>A	XP_016867228.1:p.Phe263Ile
XM_017011740.1:c.787T>A	XP_016867229.1:p.Phe263Ile
NM_000083.3:c.1237T>A MANE Select	NP_000074.3:p.Phe413Ile
NR_046453.2:n.1342T>A