Canonical Allele Identifier: CA127978

Gene: ALB

Linked Data

• ClinVar Variation Id: 18239
• ClinVar RCV Id: RCV000019900
• dbSNP Id: rs77892378
• MyVariant Identifiers: chr4:g.74272477T>C (hg19) ; chr4:g.73406760T>C (hg38)
• PubMed: PMID:9589637

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73406760T>C , CM000666.2:g.73406760T>C	GRCh38
NC_000004.11:g.74272477T>C , CM000666.1:g.74272477T>C	GRCh37
NC_000004.10:g.74491341T>C	NCBI36
NG_009291.1:g.7506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295897.9:c.269T>C MANE Select	ENSP00000295897.4:p.Leu90Pro
ENST00000295897.8:c.269T>C	ENSP00000295897.4:p.Leu90Pro
ENST00000401494.7:c.137+1587T>C	ENSP00000384695.3:n.137+1587T>C
ENST00000415165.6:c.137+1587T>C	ENSP00000401820.2:n.137+1587T>C
ENST00000441319.5:c.275T>C	ENSP00000392541.1:p.Leu92Pro
ENST00000476441.6:c.79+2354T>C	ENSP00000423727.1:n.79+2354T>C
ENST00000503124.5:c.31T>C	ENSP00000421027.1:p.Leu11=
ENST00000509063.5:c.269T>C	ENSP00000422784.1:p.Leu90Pro
ENST00000510166.5:n.305T>C
ENST00000514786.1:n.238T>C
ENST00000515133.5:n.310T>C
ENST00000621085.4:c.269T>C	ENSP00000483421.1:p.Leu90Pro
ENST00000621628.4:c.269T>C	ENSP00000480485.1:p.Leu90Pro
NM_000477.5:c.269T>C	NP_000468.1:p.Leu90Pro
NM_000477.6:c.269T>C	NP_000468.1:p.Leu90Pro
NM_000477.7:c.269T>C MANE Select	NP_000468.1:p.Leu90Pro