Canonical Allele Identifier: CA369643913

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029854A>T (hg19) ; chr7:g.143332761A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332761A>T , CM000669.2:g.143332761A>T	GRCh38
NC_000007.13:g.143029854A>T , CM000669.1:g.143029854A>T	GRCh37
NC_000007.12:g.142739976A>T	NCBI36
NG_009815.1:g.21636A>T
NG_009815.2:g.21636A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1289A>T	ENSP00000498052.2:p.Asn430Ile
ENST00000343257.7:c.1289A>T MANE Select	ENSP00000339867.2:p.Asn430Ile
ENST00000432192.6:c.1113A>T
ENST00000343257.6:c.1289A>T	ENSP00000339867.2:p.Asn430Ile
NM_000083.2:c.1289A>T	NP_000074.2:p.Asn430Ile
NR_046453.1:n.1341+258A>T
XM_011515781.1:c.1313A>T	XP_011514083.1:p.Asn438Ile
XM_011515782.1:c.35A>T	XP_011514084.1:p.Asn12Ile
XM_011515782.2:c.35A>T	XP_011514084.1:p.Asn12Ile
XM_017011739.1:c.863A>T	XP_016867228.1:p.Asn288Ile
XM_017011740.1:c.839A>T	XP_016867229.1:p.Asn280Ile
NM_000083.3:c.1289A>T MANE Select	NP_000074.3:p.Asn430Ile
NR_046453.2:n.1356+258A>T