Canonical Allele Identifier: CA369645601

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036625T>C (hg19) ; chr7:g.143339532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339532T>C , CM000669.2:g.143339532T>C	GRCh38
NC_000007.13:g.143036625T>C , CM000669.1:g.143036625T>C	GRCh37
NC_000007.12:g.142746747T>C	NCBI36
NG_009815.1:g.28407T>C
NG_009815.2:g.28407T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1493T>C	ENSP00000498052.2:p.Val498Ala
ENST00000343257.7:c.1493T>C MANE Select	ENSP00000339867.2:p.Val498Ala
ENST00000432192.6:c.1317T>C
ENST00000343257.6:c.1493T>C	ENSP00000339867.2:p.Val498Ala
NM_000083.2:c.1493T>C	NP_000074.2:p.Val498Ala
NR_046453.1:n.1433T>C
XM_011515781.1:c.1517T>C	XP_011514083.1:p.Val506Ala
XM_011515782.1:c.239T>C	XP_011514084.1:p.Val80Ala
XM_011515782.2:c.239T>C	XP_011514084.1:p.Val80Ala
XM_017011739.1:c.1067T>C	XP_016867228.1:p.Val356Ala
XM_017011740.1:c.1043T>C	XP_016867229.1:p.Val348Ala
NM_000083.3:c.1493T>C MANE Select	NP_000074.3:p.Val498Ala
NR_046453.2:n.1448T>C