Canonical Allele Identifier: CA369643908

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029853A>T (hg19) ; chr7:g.143332760A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332760A>T , CM000669.2:g.143332760A>T	GRCh38
NC_000007.13:g.143029853A>T , CM000669.1:g.143029853A>T	GRCh37
NC_000007.12:g.142739975A>T	NCBI36
NG_009815.1:g.21635A>T
NG_009815.2:g.21635A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1288A>T	ENSP00000498052.2:p.Asn430Tyr
ENST00000343257.7:c.1288A>T MANE Select	ENSP00000339867.2:p.Asn430Tyr
ENST00000432192.6:c.1112A>T
ENST00000343257.6:c.1288A>T	ENSP00000339867.2:p.Asn430Tyr
NM_000083.2:c.1288A>T	NP_000074.2:p.Asn430Tyr
NR_046453.1:n.1341+257A>T
XM_011515781.1:c.1312A>T	XP_011514083.1:p.Asn438Tyr
XM_011515782.1:c.34A>T	XP_011514084.1:p.Asn12Tyr
XM_011515782.2:c.34A>T	XP_011514084.1:p.Asn12Tyr
XM_017011739.1:c.862A>T	XP_016867228.1:p.Asn288Tyr
XM_017011740.1:c.838A>T	XP_016867229.1:p.Asn280Tyr
NM_000083.3:c.1288A>T MANE Select	NP_000074.3:p.Asn430Tyr
NR_046453.2:n.1356+257A>T