Canonical Allele Identifier: CA10640531

Gene: ITGB4

Linked Data

• ClinVar Variation Id: 325120
• ClinVar RCV Id: RCV000397195
• dbSNP Id: rs886053407
• gnomAD v2: 17-73717680-T-C
• gnomAD v3: 17-75721600-T-C
• gnomAD v4: 17-75721600-T-C
• MyVariant Identifiers: chr17:g.73717680T>C (hg19) ; chr17:g.75721600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75721600T>C , CM000679.2:g.75721600T>C	GRCh38
NC_000017.10:g.73717680T>C , CM000679.1:g.73717680T>C	GRCh37
NC_000017.9:g.71229275T>C	NCBI36
NG_007372.1:g.5165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.-23T>C	ENSP00000400217.2:n.-23T>C
ENST00000200181.8:c.-23T>C MANE Select	ENSP00000200181.3:n.-23T>C
ENST00000200181.7:c.-23T>C	ENSP00000200181.3:n.-23T>C
ENST00000450894.7:c.-23T>C	ENSP00000405536.3:n.-23T>C
ENST00000579662.5:c.-11+37T>C	ENSP00000463651.1:n.-11+37T>C
ENST00000580542.5:n.55+37T>C
NM_000213.3:c.-23T>C	NP_000204.3:n.-23T>C
NM_001005731.1:c.-23T>C	NP_001005731.1:n.-23T>C
XM_005257309.2:c.-11+37T>C	XP_005257366.1:n.-11+37T>C
XM_005257311.3:c.-23T>C	XP_005257368.1:n.-23T>C
XM_005257312.2:c.-11+37T>C	XP_005257369.1:n.-11+37T>C
NM_000213.4:c.-23T>C	NP_000204.3:n.-23T>C
NM_001005731.2:c.-23T>C	NP_001005731.1:n.-23T>C
NM_001321123.1:c.-11+37T>C	NP_001308052.1:n.-11+37T>C
XM_005257311.4:c.-23T>C	XP_005257368.1:n.-23T>C
NM_000213.5:c.-23T>C MANE Select	NP_000204.3:n.-23T>C
NM_001005731.3:c.-23T>C	NP_001005731.1:n.-23T>C
NM_001321123.2:c.-11+37T>C	NP_001308052.1:n.-11+37T>C