Canonical Allele Identifier: CA369645646

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036636A>T (hg19) ; chr7:g.143339543A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339543A>T , CM000669.2:g.143339543A>T	GRCh38
NC_000007.13:g.143036636A>T , CM000669.1:g.143036636A>T	GRCh37
NC_000007.12:g.142746758A>T	NCBI36
NG_009815.1:g.28418A>T
NG_009815.2:g.28418A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1504A>T	ENSP00000498052.2:p.Met502Leu
ENST00000343257.7:c.1504A>T MANE Select	ENSP00000339867.2:p.Met502Leu
ENST00000432192.6:c.1328A>T
ENST00000343257.6:c.1504A>T	ENSP00000339867.2:p.Met502Leu
NM_000083.2:c.1504A>T	NP_000074.2:p.Met502Leu
NR_046453.1:n.1444A>T
XM_011515781.1:c.1528A>T	XP_011514083.1:p.Met510Leu
XM_011515782.1:c.250A>T	XP_011514084.1:p.Met84Leu
XM_011515782.2:c.250A>T	XP_011514084.1:p.Met84Leu
XM_017011739.1:c.1078A>T	XP_016867228.1:p.Met360Leu
XM_017011740.1:c.1054A>T	XP_016867229.1:p.Met352Leu
NM_000083.3:c.1504A>T MANE Select	NP_000074.3:p.Met502Leu
NR_046453.2:n.1459A>T