Canonical Allele Identifier: CA369653566

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351663-A-T
• MyVariant Identifiers: chr7:g.143048756A>T (hg19) ; chr7:g.143351663A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351663A>T , CM000669.2:g.143351663A>T	GRCh38
NC_000007.13:g.143048756A>T , CM000669.1:g.143048756A>T	GRCh37
NC_000007.12:g.142758878A>T	NCBI36
NG_009815.1:g.40538A>T
NG_009815.2:g.40538A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2665A>T	ENSP00000498052.2:p.Asn889Tyr
ENST00000343257.7:c.2665A>T MANE Select	ENSP00000339867.2:p.Asn889Tyr
ENST00000432192.6:c.2489A>T
ENST00000343257.6:c.2665A>T	ENSP00000339867.2:p.Asn889Tyr
NM_000083.2:c.2665A>T	NP_000074.2:p.Asn889Tyr
NR_046453.1:n.2605A>T
XM_011515781.1:c.2689A>T	XP_011514083.1:p.Asn897Tyr
XM_011515782.1:c.1411A>T	XP_011514084.1:p.Asn471Tyr
XM_011515782.2:c.1411A>T	XP_011514084.1:p.Asn471Tyr
XM_017011739.1:c.2239A>T	XP_016867228.1:p.Asn747Tyr
XM_017011740.1:c.2215A>T	XP_016867229.1:p.Asn739Tyr
NM_000083.3:c.2665A>T MANE Select	NP_000074.3:p.Asn889Tyr
NR_046453.2:n.2620A>T