Canonical Allele Identifier: CA369646474

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039086A>C (hg19) ; chr7:g.143341993A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341993A>C , CM000669.2:g.143341993A>C	GRCh38
NC_000007.13:g.143039086A>C , CM000669.1:g.143039086A>C	GRCh37
NC_000007.12:g.142749208A>C	NCBI36
NG_009815.1:g.30868A>C
NG_009815.2:g.30868A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1647A>C	ENSP00000498052.2:p.Leu549Phe
ENST00000343257.7:c.1647A>C MANE Select	ENSP00000339867.2:p.Leu549Phe
ENST00000432192.6:c.1471A>C
ENST00000343257.6:c.1647A>C	ENSP00000339867.2:p.Leu549Phe
NM_000083.2:c.1647A>C	NP_000074.2:p.Leu549Phe
NR_046453.1:n.1587A>C
XM_011515781.1:c.1671A>C	XP_011514083.1:p.Leu557Phe
XM_011515782.1:c.393A>C	XP_011514084.1:p.Leu131Phe
XM_011515782.2:c.393A>C	XP_011514084.1:p.Leu131Phe
XM_017011739.1:c.1221A>C	XP_016867228.1:p.Leu407Phe
XM_017011740.1:c.1197A>C	XP_016867229.1:p.Leu399Phe
NM_000083.3:c.1647A>C MANE Select	NP_000074.3:p.Leu549Phe
NR_046453.2:n.1602A>C