Canonical Allele Identifier: CA369643698

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029821T>C (hg19) ; chr7:g.143332728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332728T>C , CM000669.2:g.143332728T>C	GRCh38
NC_000007.13:g.143029821T>C , CM000669.1:g.143029821T>C	GRCh37
NC_000007.12:g.142739943T>C	NCBI36
NG_009815.1:g.21603T>C
NG_009815.2:g.21603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1256T>C	ENSP00000498052.2:p.Met419Thr
ENST00000343257.7:c.1256T>C MANE Select	ENSP00000339867.2:p.Met419Thr
ENST00000432192.6:c.1080T>C
ENST00000343257.6:c.1256T>C	ENSP00000339867.2:p.Met419Thr
NM_000083.2:c.1256T>C	NP_000074.2:p.Met419Thr
NR_046453.1:n.1341+225T>C
XM_011515781.1:c.1280T>C	XP_011514083.1:p.Met427Thr
XM_011515782.1:c.2T>C	XP_011514084.1:p.Met1Thr
XM_011515782.2:c.2T>C	XP_011514084.1:p.Met1Thr
XM_017011739.1:c.830T>C	XP_016867228.1:p.Met277Thr
XM_017011740.1:c.806T>C	XP_016867229.1:p.Met269Thr
NM_000083.3:c.1256T>C MANE Select	NP_000074.3:p.Met419Thr
NR_046453.2:n.1356+225T>C