Canonical Allele Identifier: CA369645692

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339552-C-T
• MyVariant Identifiers: chr7:g.143036645C>T (hg19) ; chr7:g.143339552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339552C>T , CM000669.2:g.143339552C>T	GRCh38
NC_000007.13:g.143036645C>T , CM000669.1:g.143036645C>T	GRCh37
NC_000007.12:g.142746767C>T	NCBI36
NG_009815.1:g.28427C>T
NG_009815.2:g.28427C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1513C>T	ENSP00000498052.2:p.Leu505Phe
ENST00000343257.7:c.1513C>T MANE Select	ENSP00000339867.2:p.Leu505Phe
ENST00000432192.6:c.1337C>T
ENST00000343257.6:c.1513C>T	ENSP00000339867.2:p.Leu505Phe
NM_000083.2:c.1513C>T	NP_000074.2:p.Leu505Phe
NR_046453.1:n.1453C>T
XM_011515781.1:c.1537C>T	XP_011514083.1:p.Leu513Phe
XM_011515782.1:c.259C>T	XP_011514084.1:p.Leu87Phe
XM_011515782.2:c.259C>T	XP_011514084.1:p.Leu87Phe
XM_017011739.1:c.1087C>T	XP_016867228.1:p.Leu363Phe
XM_017011740.1:c.1063C>T	XP_016867229.1:p.Leu355Phe
NM_000083.3:c.1513C>T MANE Select	NP_000074.3:p.Leu505Phe
NR_046453.2:n.1468C>T