Canonical Allele Identifier: CA658797920

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 538007
• ClinVar RCV Id: RCV000647137
• dbSNP Id: rs1555158331
• gnomAD v4: 12-55688101-G-A
• MyVariant Identifiers: chr12:g.56081885G>A (hg19) ; chr12:g.55688101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55688101G>A , CM000674.2:g.55688101G>A	GRCh38
NC_000012.11:g.56081885G>A , CM000674.1:g.56081885G>A	GRCh37
NC_000012.10:g.54368152G>A	NCBI36
NG_012343.1:g.29205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2682-5C>T	ENSP00000452467.1:n.*2682-5C>T
ENST00000554327.6:c.1729-5C>T
ENST00000557058.2:n.2473-5C>T
ENST00000557257.2:c.2584-5C>T	ENSP00000450578.2:n.2584-5C>T
ENST00000557555.3:c.3070-5C>T	ENSP00000451039.3:n.3070-5C>T
ENST00000686981.1:c.*2769-5C>T	ENSP00000510795.1:n.*2769-5C>T
ENST00000687390.1:n.1164-5C>T
ENST00000688413.1:n.2172-5C>T
ENST00000691052.1:c.*1542-5C>T	ENSP00000508886.1:n.*1542-5C>T
ENST00000691846.1:c.1871-5C>T
ENST00000691973.1:c.2998-5C>T	ENSP00000509141.1:n.2998-5C>T
ENST00000257879.11:c.3058-5C>T MANE Select	ENSP00000257879.7:n.3058-5C>T
ENST00000553804.6:c.3070-5C>T	ENSP00000452120.1:n.3070-5C>T
ENST00000557555.2:c.148-5C>T	ENSP00000451039.2:n.148-5C>T
ENST00000257879.10:c.3058-5C>T	ENSP00000257879.6:n.3058-5C>T
ENST00000347027.10:c.3040-5C>T	ENSP00000343009.6:n.3040-5C>T
ENST00000452168.6:c.2779-5C>T	ENSP00000393844.2:n.2779-5C>T
ENST00000553804.5:c.3070-5C>T	ENSP00000452120.1:n.3070-5C>T
ENST00000554327.5:c.1123-5C>T
ENST00000555728.5:c.3190-5C>T	ENSP00000452387.1:n.3190-5C>T
ENST00000557555.1:c.148-5C>T
NM_001144996.1:c.3070-5C>T	NP_001138468.1:n.3070-5C>T
NM_001144997.1:c.2779-5C>T	NP_001138469.1:n.2779-5C>T
NM_002206.2:c.3058-5C>T	NP_002197.2:n.3058-5C>T
XM_005268839.1:c.3190-5C>T	XP_005268896.1:n.3190-5C>T
XM_005268840.1:c.3172-5C>T	XP_005268897.1:n.3172-5C>T
XM_005268841.1:c.3190-5C>T	XP_005268898.1:n.3190-5C>T
XM_005268842.1:c.3040-5C>T	XP_005268899.1:n.3040-5C>T
XM_005268844.1:c.2851-5C>T	XP_005268901.1:n.2851-5C>T
XM_005268845.1:c.2719-5C>T	XP_005268902.1:n.2719-5C>T
XM_005268846.1:c.2719-5C>T	XP_005268903.1:n.2719-5C>T
XM_005268847.1:c.2716-5C>T	XP_005268904.1:n.2716-5C>T
XM_005268848.1:c.2716-5C>T	XP_005268905.1:n.2716-5C>T
XM_005268849.1:c.2716-5C>T	XP_005268906.1:n.2716-5C>T
XM_005268850.1:c.2584-5C>T	XP_005268907.1:n.2584-5C>T
XM_011538286.1:c.2851-5C>T	XP_011536588.1:n.2851-5C>T
XM_005268839.2:c.3190-5C>T	XP_005268896.1:n.3190-5C>T
XM_005268840.2:c.3172-5C>T	XP_005268897.1:n.3172-5C>T
XM_005268841.2:c.3190-5C>T	XP_005268898.1:n.3190-5C>T
XM_005268842.2:c.3040-5C>T	XP_005268899.1:n.3040-5C>T
XM_017019265.1:c.2800-5C>T	XP_016874754.1:n.2800-5C>T
NM_001144996.2:c.3070-5C>T	NP_001138468.1:n.3070-5C>T
NM_001367993.1:c.2731-5C>T	NP_001354922.1:n.2731-5C>T
NM_001367994.1:c.1714-5C>T	NP_001354923.1:n.1714-5C>T
NM_001374465.1:c.3040-5C>T	NP_001361394.1:n.3040-5C>T
NM_002206.3:c.3058-5C>T MANE Select	NP_002197.2:n.3058-5C>T