Canonical Allele Identifier: CA127955
Gene: ALB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73412027A>C
GRCh37 chr4:g.74277744A>C
Revel Score:
ENST00000295897 (MANE Select) 0.264
ENST00000415165 0.264
ENST00000503124 0.264
ENST00000509063 0.264
ENST00000401494 0.264
ENST00000430202 0.264
ENST00000511370 0.199
gnomAD v2:
4:74277744 A / C
gnomAD v3:
4:73412027 A / C
gnomAD v4:
chr4-73412027-A-C
Joint Max Group AF 0.00004863 (NFE)
Genomes Max Group AF 0.00010174 (NFE)
Exomes Max Group AF 0.00004178 (NFE)
ClinVar RCV:
RCV000019888
RCV001153985
ClinVar Variation:
18227
dbSNP:
79804069
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73412027A>C , CM000666.2:g.73412027A>C GRCh38
NC_000004.11:g.74277744A>C , CM000666.1:g.74277744A>C GRCh37
NC_000004.10:g.74496608A>C NCBI36
NG_009291.1:g.12773A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.745A>C MANE Select ENSP00000295897.4:p.Lys249Gln
ENST00000295897.8:c.745A>C ENSP00000295897.4:p.Lys249Gln
ENST00000401494.7:c.400A>C ENSP00000384695.3:p.Lys134Gln
ENST00000415165.6:c.169A>C ENSP00000401820.2:p.Lys57Gln
ENST00000476441.6:c.*24A>C ENSP00000423727.1:n.*24A>C
ENST00000503124.5:c.295A>C ENSP00000421027.1:p.Lys99Gln
ENST00000505649.5:n.431A>C
ENST00000507673.1:n.62A>C
ENST00000509063.5:c.745A>C ENSP00000422784.1:p.Lys249Gln
ENST00000511370.1:c.278A>C
ENST00000621085.4:c.490+2665A>C ENSP00000483421.1:n.490+2665A>C
ENST00000621628.4:c.486+2951A>C ENSP00000480485.1:n.486+2951A>C
NM_000477.5:c.745A>C NP_000468.1:p.Lys249Gln
NM_000477.6:c.745A>C NP_000468.1:p.Lys249Gln
NM_000477.7:c.745A>C MANE Select NP_000468.1:p.Lys249Gln
Search 100 bp 5'
Search 100 bp 3'