Canonical Allele Identifier: CA8768653

Gene: ITGB4

Linked Data

• dbSNP Id: rs752981908
• ExAC: 17:73723835 T / C
• gnomAD v2: 17-73723835-T-C
• gnomAD v3: 17-75727754-T-C
• gnomAD v4: 17-75727754-T-C
• MyVariant Identifiers: chr17:g.73723835T>C (hg19) ; chr17:g.75727754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75727754T>C , CM000679.2:g.75727754T>C	GRCh38
NC_000017.10:g.73723835T>C , CM000679.1:g.73723835T>C	GRCh37
NC_000017.9:g.71235430T>C	NCBI36
NG_007372.1:g.11320T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000449880.7:c.368T>C	ENSP00000400217.2:p.Phe123Ser
ENST00000200181.8:c.368T>C MANE Select	ENSP00000200181.3:p.Phe123Ser
ENST00000200181.7:c.368T>C	ENSP00000200181.3:p.Phe123Ser
ENST00000449880.6:c.368T>C	ENSP00000400217.2:p.Phe123Ser
ENST00000450894.7:c.368T>C	ENSP00000405536.3:p.Phe123Ser
ENST00000579662.5:c.368T>C	ENSP00000463651.1:p.Phe123Ser
ENST00000580542.5:n.433T>C
ENST00000584558.5:n.368T>C
NM_000213.3:c.368T>C	NP_000204.3:p.Phe123Ser
NM_001005619.1:c.368T>C	NP_001005619.1:p.Phe123Ser
NM_001005731.1:c.368T>C	NP_001005731.1:p.Phe123Ser
XM_005257309.2:c.368T>C	XP_005257366.1:p.Phe123Ser
XM_005257311.3:c.368T>C	XP_005257368.1:p.Phe123Ser
XM_005257312.2:c.368T>C	XP_005257369.1:p.Phe123Ser
XM_006721866.2:c.473T>C	XP_006721929.1:p.Phe158Ser
XM_006721867.2:c.473T>C	XP_006721930.1:p.Phe158Ser
XM_006721868.2:c.473T>C	XP_006721931.1:p.Phe158Ser
XM_006721870.2:c.473T>C	XP_006721933.1:p.Phe158Ser
XM_011524751.1:c.473T>C	XP_011523053.1:p.Phe158Ser
NM_000213.4:c.368T>C	NP_000204.3:p.Phe123Ser
NM_001005731.2:c.368T>C	NP_001005731.1:p.Phe123Ser
NM_001321123.1:c.368T>C	NP_001308052.1:p.Phe123Ser
XM_005257311.4:c.368T>C	XP_005257368.1:p.Phe123Ser
XM_006721866.3:c.473T>C	XP_006721929.1:p.Phe158Ser
XM_006721867.3:c.473T>C	XP_006721930.1:p.Phe158Ser
XM_006721868.3:c.473T>C	XP_006721931.1:p.Phe158Ser
XM_006721870.3:c.473T>C	XP_006721933.1:p.Phe158Ser
XM_011524751.2:c.473T>C	XP_011523053.1:p.Phe158Ser
NM_000213.5:c.368T>C MANE Select	NP_000204.3:p.Phe123Ser
NM_001005731.3:c.368T>C	NP_001005731.1:p.Phe123Ser
NM_001321123.2:c.368T>C	NP_001308052.1:p.Phe123Ser