Canonical Allele Identifier: CA127970
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73416262G>C
GRCh37 chr4:g.74281979G>C
Revel Score:
ENST00000295897 (MANE Select) 0.083
ENST00000415165 0.083
ENST00000329326 0.083
ENST00000503124 0.083
ENST00000509063 0.083
ENST00000401494 0.083
ENST00000430202 0.083
gnomAD v2:
4:74281979 G / C
gnomAD v4:
chr4-73416262-G-C
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000019896
ClinVar Variation:
18235
dbSNP:
79047363
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73416262G>C , CM000666.2:g.73416262G>C GRCh38
NC_000004.11:g.74281979G>C , CM000666.1:g.74281979G>C GRCh37
NC_000004.10:g.74500843G>C NCBI36
NG_009291.1:g.17008G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1198G>C MANE Select ENSP00000295897.4:p.Glu400Gln
ENST00000295897.8:c.1198G>C ENSP00000295897.4:p.Glu400Gln
ENST00000401494.7:c.853G>C ENSP00000384695.3:p.Glu285Gln
ENST00000415165.6:c.622G>C ENSP00000401820.2:p.Glu208Gln
ENST00000476441.6:c.*477G>C ENSP00000423727.1:n.*477G>C
ENST00000484992.1:n.518G>C
ENST00000503124.5:c.748G>C ENSP00000421027.1:p.Glu250Gln
ENST00000505649.5:n.884G>C
ENST00000509063.5:c.1198G>C ENSP00000422784.1:p.Glu400Gln
ENST00000511370.1:c.731G>C
ENST00000621085.4:c.559G>C ENSP00000483421.1:p.Glu187Gln
ENST00000621628.4:c.559G>C ENSP00000480485.1:p.Glu187Gln
NM_000477.5:c.1198G>C NP_000468.1:p.Glu400Gln
NM_000477.6:c.1198G>C NP_000468.1:p.Glu400Gln
NM_000477.7:c.1198G>C MANE Select NP_000468.1:p.Glu400Gln
Search 100 bp 5'
Search 100 bp 3'