Canonical Allele Identifier: CA394882239
Gene: ABCC1 HGNC NCBI

Linked Data

dbSNP Id: rs374078745

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16016615C>A , CM000678.2:g.16016615C>A GRCh38
NC_000016.9:g.16110472C>A , CM000678.1:g.16110472C>A GRCh37
NC_000016.8:g.16017973C>A NCBI36
NG_028268.1:g.72039C>A
NG_028268.2:g.72039C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.609C>A ENSP00000382340.4:p.His203Gln
ENST00000399410.8:c.609C>A MANE Select ENSP00000382342.3:p.His203Gln
ENST00000572882.3:c.609C>A ENSP00000461615.2:p.His203Gln
ENST00000574224.2:n.684C>A
ENST00000677164.1:c.489+1987C>A ENSP00000502873.1:n.489+1987C>A
ENST00000678422.1:c.609C>A ENSP00000503954.1:p.His203Gln
ENST00000679043.1:n.561C>A
ENST00000399408.6:c.-370C>A ENSP00000382340.3:n.-370C>A
ENST00000399410.7:c.609C>A ENSP00000382342.3:p.His203Gln
ENST00000572882.2:c.304C>A
ENST00000574224.1:n.209C>A
NM_004996.3:c.609C>A NP_004987.2:p.His203Gln
XM_011522497.1:c.585C>A XP_011520799.1:p.His195Gln
XM_011522498.1:c.663C>A XP_011520800.1:p.His221Gln
XM_011522498.2:c.663C>A XP_011520800.1:p.His221Gln
XM_017023237.1:c.663C>A XP_016878726.1:p.His221Gln
XM_017023238.1:c.543+1987C>A XP_016878727.1:n.543+1987C>A
XM_017023239.1:c.525C>A XP_016878728.1:p.His175Gln
XM_017023240.1:c.663C>A XP_016878729.1:p.His221Gln
XM_017023241.1:c.405+6714C>A XP_016878730.1:n.405+6714C>A
XM_017023242.1:c.663C>A XP_016878731.1:p.His221Gln
XM_017023243.2:c.663C>A XP_016878732.1:p.His221Gln
NM_004996.4:c.609C>A MANE Select NP_004987.2:p.His203Gln