Canonical Allele Identifier: CA99707219
Gene: ALB HGNC NCBI

Linked Data

dbSNP Id: rs918646680
gnomAD v3: 4-73415076-T-C
gnomAD v4: 4-73415076-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73415076T>C , CM000666.2:g.73415076T>C GRCh38
NC_000004.11:g.74280793T>C , CM000666.1:g.74280793T>C GRCh37
NC_000004.10:g.74499657T>C NCBI36
NG_009291.1:g.15822T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1100T>C MANE Select ENSP00000295897.4:p.Val367Ala
ENST00000295897.8:c.1100T>C ENSP00000295897.4:p.Val367Ala
ENST00000401494.7:c.755T>C ENSP00000384695.3:p.Val252Ala
ENST00000415165.6:c.524T>C ENSP00000401820.2:p.Val175Ala
ENST00000476441.6:c.*379T>C ENSP00000423727.1:n.*379T>C
ENST00000484992.1:n.420T>C
ENST00000503124.5:c.650T>C ENSP00000421027.1:p.Val217Ala
ENST00000504043.1:n.103T>C
ENST00000505649.5:n.786T>C
ENST00000509063.5:c.1100T>C ENSP00000422784.1:p.Val367Ala
ENST00000511370.1:c.633T>C
ENST00000621085.4:c.491-30T>C ENSP00000483421.1:n.491-30T>C
ENST00000621628.4:c.487-26T>C ENSP00000480485.1:n.487-26T>C
NM_000477.5:c.1100T>C NP_000468.1:p.Val367Ala
NM_000477.6:c.1100T>C NP_000468.1:p.Val367Ala
NM_000477.7:c.1100T>C MANE Select NP_000468.1:p.Val367Ala