Canonical Allele Identifier: CA2959740

Gene: ALB

Linked Data

• ClinVar Variation Id: 349640
• ClinVar RCV Id: RCV000266973 ; RCV000888413
• dbSNP Id: rs141131597
• ExAC: 4:74285363 C / T
• gnomAD v2: 4-74285363-C-T
• gnomAD v3: 4-73419646-C-T
• gnomAD v4: 4-73419646-C-T
• MyVariant Identifiers: chr4:g.74285363C>T (hg19) ; chr4:g.73419646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73419646C>T , CM000666.2:g.73419646C>T	GRCh38
NC_000004.11:g.74285363C>T , CM000666.1:g.74285363C>T	GRCh37
NC_000004.10:g.74504227C>T	NCBI36
NG_009291.1:g.20392C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.1785+7C>T MANE Select	ENSP00000295897.4:n.1785+7C>T
ENST00000295897.8:c.1785+7C>T	ENSP00000295897.4:n.1785+7C>T
ENST00000401494.7:c.1440+7C>T	ENSP00000384695.3:n.1440+7C>T
ENST00000415165.6:c.1209+7C>T	ENSP00000401820.2:n.1209+7C>T
ENST00000476441.6:c.*1064+7C>T	ENSP00000423727.1:n.*1064+7C>T
ENST00000495173.1:n.93+7C>T
ENST00000503124.5:c.1335+7C>T	ENSP00000421027.1:n.1335+7C>T
ENST00000505649.5:n.1332+7C>T
ENST00000508932.5:n.175+191C>T
ENST00000509063.5:c.1785+7C>T	ENSP00000422784.1:n.1785+7C>T
ENST00000511370.1:c.1318+7C>T
ENST00000621085.4:c.1146+7C>T	ENSP00000483421.1:n.1146+7C>T
ENST00000621628.4:c.1146+7C>T	ENSP00000480485.1:n.1146+7C>T
NM_000477.5:c.1785+7C>T	NP_000468.1:n.1785+7C>T
NM_000477.6:c.1785+7C>T	NP_000468.1:n.1785+7C>T
NM_000477.7:c.1785+7C>T MANE Select	NP_000468.1:n.1785+7C>T