Canonical Allele Identifier: CA369646633

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039160A>T (hg19) ; chr7:g.143342067A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342067A>T , CM000669.2:g.143342067A>T	GRCh38
NC_000007.13:g.143039160A>T , CM000669.1:g.143039160A>T	GRCh37
NC_000007.12:g.142749282A>T	NCBI36
NG_009815.1:g.30942A>T
NG_009815.2:g.30942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1721A>T	ENSP00000498052.2:p.Gln574Leu
ENST00000343257.7:c.1721A>T MANE Select	ENSP00000339867.2:p.Gln574Leu
ENST00000432192.6:c.1545A>T
ENST00000343257.6:c.1721A>T	ENSP00000339867.2:p.Gln574Leu
NM_000083.2:c.1721A>T	NP_000074.2:p.Gln574Leu
NR_046453.1:n.1661A>T
XM_011515781.1:c.1745A>T	XP_011514083.1:p.Gln582Leu
XM_011515782.1:c.467A>T	XP_011514084.1:p.Gln156Leu
XM_011515782.2:c.467A>T	XP_011514084.1:p.Gln156Leu
XM_017011739.1:c.1295A>T	XP_016867228.1:p.Gln432Leu
XM_017011740.1:c.1271A>T	XP_016867229.1:p.Gln424Leu
NM_000083.3:c.1721A>T MANE Select	NP_000074.3:p.Gln574Leu
NR_046453.2:n.1676A>T